Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W1964724190', 'doi': 'https://doi.org/10.1002/humu.1380110164', 'title': 'Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype', 'display_name': 'Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype', 'publication_year': 1998, 'publication_date': '1998-01-01', 'ids': {'openalex': 'https://openalex.org/W1964724190', 'doi': 'https://doi.org/10.1002/humu.1380110164', 'mag': '1964724190', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/9452085'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/humu.1380110164', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380110164', 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380110164', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5084596755', 'display_name': 'Cheryl Black', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802526638', 'display_name': 'Ninewells Hospital', 'ror': 'https://ror.org/039c6rk82', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800860831', 'https://openalex.org/I2802526638']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Cheryl Black', 'raw_affiliation_strings': ['Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK'], 'affiliations': [{'raw_affiliation_string': 'Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK', 'institution_ids': ['https://openalex.org/I2802526638']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5039370281', 'display_name': 'Anne P. Withers', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802526638', 'display_name': 'Ninewells Hospital', 'ror': 'https://ror.org/039c6rk82', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800860831', 'https://openalex.org/I2802526638']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Anne P. Withers', 'raw_affiliation_strings': ['Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK'], 'affiliations': [{'raw_affiliation_string': 'Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK', 'institution_ids': ['https://openalex.org/I2802526638']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5113520196', 'display_name': 'Jonathon Gray', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I97429440', 'display_name': 'University of Wales', 'ror': 'https://ror.org/01se4f844', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I97429440']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Jonathon R. Gray', 'raw_affiliation_strings': ['Institute of Medical Genetics, University of Wales, Cardiff, UK'], 'affiliations': [{'raw_affiliation_string': 'Institute of Medical Genetics, University of Wales, Cardiff, UK', 'institution_ids': ['https://openalex.org/I97429440']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111518059', 'display_name': 'Allan B. Bridges', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I12093191', 'display_name': 'University of Stirling', 'ror': 'https://ror.org/045wgfr59', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I12093191']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Allan B. Bridges', 'raw_affiliation_strings': ['Department of Medicine, Stirling Royal Infirmary, Livilands Road, Stirling, SK8 2AU, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Medicine, Stirling Royal Infirmary, Livilands Road, Stirling, SK8 2AU, UK', 'institution_ids': ['https://openalex.org/I12093191']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5013641680', 'display_name': 'Ashley Craig', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I177639307', 'display_name': 'University of Dundee', 'ror': 'https://ror.org/03h2bxq36', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I177639307']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Ashley Craig', 'raw_affiliation_strings': ['*Department of Biochemistry, University of Dundee, Dundee DD1 4HN, UK'], 'affiliations': [{'raw_affiliation_string': '*Department of Biochemistry, University of Dundee, Dundee DD1 4HN, UK', 'institution_ids': ['https://openalex.org/I177639307']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5109146289', 'display_name': 'David Baty', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802526638', 'display_name': 'Ninewells Hospital', 'ror': 'https://ror.org/039c6rk82', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800860831', 'https://openalex.org/I2802526638']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'David U. Baty', 'raw_affiliation_strings': ['Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK'], 'affiliations': [{'raw_affiliation_string': 'Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK', 'institution_ids': ['https://openalex.org/I2802526638']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5111777089', 'display_name': 'Maureen Boxer', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802526638', 'display_name': 'Ninewells Hospital', 'ror': 'https://ror.org/039c6rk82', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2800860831', 'https://openalex.org/I2802526638']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Maureen Boxer', 'raw_affiliation_strings': ['Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK'], 'affiliations': [{'raw_affiliation_string': 'Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK', 'institution_ids': ['https://openalex.org/I2802526638']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 4, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2300, 'currency': 'USD', 'value_usd': 2300, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.718, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 27, 'citation_normalized_percentile': {'value': 0.774387, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 87, 'max': 88}, 'biblio': {'volume': '11', 'issue': 'S1', 'first_page': 'S198', 'last_page': 'S200'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11310', 'display_name': 'Connective tissue disorders research', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11310', 'display_name': 'Connective tissue disorders research', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10620', 'display_name': 'Protease and Inhibitor Mechanisms', 'score': 0.9888, 'subfield': {'id': 'https://openalex.org/subfields/1306', 'display_name': 'Cancer Research'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12505', 'display_name': 'Peptidase Inhibition and Analysis', 'score': 0.9871, 'subfield': {'id': 'https://openalex.org/subfields/2730', 'display_name': 'Oncology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.7359492}, {'id': 'https://openalex.org/keywords/withers', 'display_name': 'Withers', 'score': 0.71604294}, {'id': 'https://openalex.org/keywords/molecular-pathology', 'display_name': 'Molecular Pathology', 'score': 0.4737678}, {'id': 'https://openalex.org/keywords/molecular-genetics', 'display_name': 'Molecular Genetics', 'score': 0.43626294}], 'concepts': [{'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.7359492}, {'id': 'https://openalex.org/C2777114023', 'wikidata': 'https://www.wikidata.org/wiki/Q493456', 'display_name': 'Withers', 'level': 3, 'score': 0.71604294}, {'id': 'https://openalex.org/C74092355', 'wikidata': 'https://www.wikidata.org/wiki/Q1056943', 'display_name': 'Molecular pathology', 'level': 3, 'score': 0.4737678}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.44661117}, {'id': 'https://openalex.org/C204315192', 'wikidata': 'https://www.wikidata.org/wiki/Q210506', 'display_name': 'Molecular genetics', 'level': 3, 'score': 0.43626294}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.40765393}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.3211674}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.15894923}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.07906285}, {'id': 'https://openalex.org/C147583825', 'wikidata': 'https://www.wikidata.org/wiki/Q620876', 'display_name': 'Body weight', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D008382', 'descriptor_name': 'Marfan Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008840', 'descriptor_name': 'Microfilament Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019943', 'descriptor_name': 'Amino Acid Substitution', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001120', 'descriptor_name': 'Arginine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003545', 'descriptor_name': 'Cysteine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005192', 'descriptor_name': 'Family Health', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000071838', 'descriptor_name': 'Fibrillin-1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000071837', 'descriptor_name': 'Fibrillins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008382', 'descriptor_name': 'Marfan Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008382', 'descriptor_name': 'Marfan Syndrome', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D008840', 'descriptor_name': 'Microfilament Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D018807', 'descriptor_name': 'Polymorphism, Single-Stranded Conformational', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/humu.1380110164', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380110164', 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/9452085', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/humu.1380110164', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380110164', 'source': {'id': 'https://openalex.org/S98809561', 'display_name': 'Human Mutation', 'issn_l': '1059-7794', 'issn': ['1059-7794', '1098-1004'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 13, 'referenced_works': ['https://openalex.org/W1555580499', 'https://openalex.org/W2005924962', 'https://openalex.org/W2017009317', 'https://openalex.org/W2020639229', 'https://openalex.org/W2027792758', 'https://openalex.org/W2046902885', 'https://openalex.org/W2053146170', 'https://openalex.org/W2060534190', 'https://openalex.org/W2142653567', 'https://openalex.org/W2170121771', 'https://openalex.org/W2170453898', 'https://openalex.org/W2339522650', 'https://openalex.org/W4235224941'], 'related_works': ['https://openalex.org/W642551847', 'https://openalex.org/W4313046938', 'https://openalex.org/W4256513304', 'https://openalex.org/W2936575032', 'https://openalex.org/W2410915912', 'https://openalex.org/W2352350316', 'https://openalex.org/W2018917554', 'https://openalex.org/W1604249486', 'https://openalex.org/W1538989297', 'https://openalex.org/W1481858171'], 'abstract_inverted_index': {'Human': [0, 884], 'MutationVolume': [1], '11,': [2], 'Issue': [3], 'S1': [4], 'p.': [5], 'S198-S200': [6, 886], 'Mutation': [7, 782], 'in': [8, 543, 593, 622, 647, 726, 759, 783, 813], 'BriefFree': [9], 'Access': [10], 'Correlation': [11], 'of': [12, 33, 59, 82, 86, 102, 123, 126, 147, 175, 189, 214, 240, 263, 267, 283, 304, 307, 328, 356, 370, 413, 423, 436, 447, 619, 645, 689, 716, 756, 815, 822, 832], 'a': [13, 444, 515, 587, 623, 648, 829], 'recurrent': [14, 588], 'FBN1': [15, 680, 824], 'mutation': [16, 592, 644], '(R122C)': [17], 'with': [18, 450, 650, 761], 'an': [19], 'atypical': [20], 'familial': [21], 'marfan': [22], 'syndrome': [23, 485, 546, 584, 621, 684, 869], 'phenotype': [24], 'Cheryl': [25, 27, 206, 208], 'Black,': [26, 207], 'Black': [28, 209], 'Molecular': [29, 55, 143, 171, 210, 236, 324, 352], 'Genetics': [30, 56, 144, 172, 186, 211, 237, 325, 353, 367], 'Laboratory,': [31, 57, 145, 173, 187, 212, 238, 326, 354, 368], 'Department': [32, 58, 101, 122, 146, 174, 188, 213, 239, 282, 303, 327, 355, 369], 'Pathology,': [34, 60, 148, 176, 190, 215, 241, 329, 357, 371], 'Ninewells': [35, 61, 149, 177, 191, 216, 242, 330, 358, 372], 'Hospital': [36, 62, 150, 178, 192, 217, 243, 331, 359, 373], 'and': [37, 63, 151, 179, 193, 218, 244, 332, 360, 374, 411, 415, 427, 434, 453, 508, 518, 547, 617, 785, 863, 870], 'Medical': [38, 64, 83, 152, 180, 194, 219, 245, 264, 333, 361, 375], 'School,': [39, 65, 153, 181, 195, 220, 246, 334, 362, 376], 'Dundee,': [40, 66, 127, 128, 154, 182, 221, 247, 308, 309, 335, 363], 'DD1': [41, 67, 129, 155, 183, 197, 222, 248, 310, 336, 364, 378], '9SY,': [42, 68, 156, 184, 198, 223, 249, 337, 365, 379], 'UKSearch': [43, 69, 89, 112, 131, 157, 199, 224, 250, 270, 293, 312, 338, 380], 'for': [44, 70, 90, 113, 132, 158, 200, 225, 251, 271, 294, 313, 339, 381, 483, 540, 720], 'more': [45, 71, 91, 114, 133, 159, 201, 226, 252, 272, 295, 314, 340, 382], 'papers': [46, 72, 92, 115, 134, 160, 202, 227, 253, 273, 296, 315, 341, 383], 'by': [47, 73, 93, 116, 135, 161, 203, 228, 254, 274, 297, 316, 342, 384, 511, 586, 686], 'this': [48, 74, 94, 117, 136, 162, 204, 229, 255, 275, 298, 317, 343, 385, 448], 'authorAnne': [49, 230], 'P.': [50, 53, 231, 234], 'Withers,': [51, 232], 'Anne': [52, 233], 'Withers': [54, 235], 'authorJonathon': [75, 256], 'R.': [76, 79, 257, 260], 'Gray,': [77, 258], 'Jonathon': [78, 259], 'Gray': [80, 261, 601], 'Institute': [81, 262], 'Genetics,': [84, 265], 'University': [85, 125, 266, 306], 'Wales,': [87, 268], 'Cardiff,': [88, 269], 'authorAllan': [95, 276], 'B.': [96, 99, 277, 280], 'Bridges,': [97, 278], 'Allan': [98, 279], 'Bridges': [100, 281, 603], 'Medicine,': [103, 284], 'Stirling': [104, 285], 'Royal': [105, 286], 'Infirmary,': [106, 287], 'Livilands': [107, 288], 'Road,': [108, 289], 'Stirling,': [109, 290], 'SK8': [110, 291], '2AU,': [111, 292], 'authorAshley': [118, 299], 'Craig,': [119, 300], 'Ashley': [120, 301], 'Craig': [121, 302], 'Biochemistry,': [124, 305], '4HN,': [130, 311], 'authorDavid': [137, 318], 'U.': [138, 141, 319, 322], 'Baty,': [139, 320], 'David': [140, 321], 'Baty': [142, 323], 'authorDr.': [163, 344], 'Maureen': [164, 169, 345, 350], 'Boxer,': [165, 346], 'Corresponding': [166, 347], 'Author': [167, 348], 'Dr.': [168, 349], 'Boxer': [170, 351, 613], 'UKMolecular': [185, 366], 'Dundee': [196, 377], 'author': [205, 386], 'First': [387], 'published:': [388], '28': [389], 'April': [390], '2011': [391], 'https://doi.org/10.1002/humu.1380110164Citations:': [392], '18AboutPDF': [393], 'ToolsRequest': [394], 'permissionExport': [395], 'citationAdd': [396], 'to': [397, 419, 442, 487, 753, 828], 'favoritesTrack': [398], 'citation': [399], 'ShareShare': [400], 'Give': [401], 'accessShare': [402, 405], 'full': [403], 'text': [404], 'full-text': [406, 421, 445], 'accessPlease': [407], 'review': [408], 'our': [409], 'Terms': [410, 433], 'Conditions': [412, 435], 'Use': [414], 'check': [416], 'box': [417], 'below': [418, 441], 'share': [420, 443], 'version': [422, 446], 'article.I': [424], 'have': [425], 'read': [426], 'accept': [428], 'the': [429, 439, 523, 537, 544, 594, 717, 722, 754, 786, 816, 823, 871], 'Wiley': [430], 'Online': [431], 'Library': [432], 'UseShareable': [437], 'LinkUse': [438], 'link': [440], 'article': [449], 'your': [451], 'friends': [452], 'colleagues.': [454], 'Learn': [455], 'more.Copy': [456], 'URL': [457], 'References': [458], 'Collod': [459], 'G,': [460, 464, 577, 660], 'Babron': [461], 'MC,': [462], 'Jondeau': [463], 'Coulon': [465], 'M,': [466, 702, 842], 'Weissenbach': [467], 'J,': [468, 612, 852], 'Dubourg': [469], 'O,': [470, 738], 'Bourdarias': [471], 'JP,': [472], 'Bonaitipellie': [473], 'C,': [474, 476, 796], 'Junien': [475], 'Boileau': [477], 'C': [478], '(1994)': [479, 615, 640, 749, 809, 859], 'A': [480, 641, 750], 'second': [481], 'locus': [482], 'Marfan': [484, 545, 583, 620, 651, 683, 727, 762, 833], 'maps': [486], 'chromosomer-3p24.2-p25.': [488], 'Nature': [489, 597, 790], 'Genet': [490, 552, 628, 655, 695, 731, 791, 876], '8:': [491], '264–': [492], '268.': [493], 'Corson': [494, 566], 'GA,': [495], 'Chalberg': [496], 'SC,': [497], 'Dietz': [498, 530, 556, 675, 747, 779], 'HC,': [499, 531, 557], 'Charboneau': [500], 'NL,': [501], 'Sakai': [502, 564], 'LY': [503], '(1993)': [504, 713], 'Fibrillin': [505], 'binds': [506], 'calcium': [507], 'is': [509, 826], 'coded': [510], 'cDNAs': [512], 'that': [513], 'reveal': [514], 'multidomain': [516], 'structure': [517, 862], 'alternatively': [519], 'spliced': [520], 'exons': [521], 'at': [522], '5′': [524], 'end.': [525], 'Genomics': [526], '17:': [527], '476–': [528], '484.': [529], 'Pyeritz': [532, 560, 673, 745], 'RE': [533], '(1995)': [534, 677], 'Mutations': [535], 'on': [536], 'human': [538], 'gene': [539, 724, 861], 'fibrillin-1': [541, 784], '(FBN1)': [542], 'related': [548], 'disorders.': [549], 'Hum': [550, 694, 729, 874], 'Mol': [551, 730, 875], '4:': [553], '1799–': [554], '1809.': [555], 'Cutting': [558], 'GR,': [559], 'RE,': [561, 674, 746], 'Maslen': [562], 'CL,': [563], 'LY,': [565], 'GM,': [567], 'Puffenberger': [568], 'EG,': [569], 'Hamosh': [570], 'A,': [571, 637], 'Nanthakumar': [572], 'EJ,': [573], 'Curristin': [574], 'SM,': [575], 'Stetten': [576], 'Meyers': [578], 'DA,': [579], 'Francomano': [580, 665], 'CA': [581], '(1991)': [582], 'caused': [585], 'de': [589], 'novo': [590], 'missense': [591, 643], 'fibrillin': [595, 646], 'gene.': [596], '352:': [598], '337–': [599], '339.': [600, 658], 'JR,': [602, 635, 706, 742], 'AB,': [604], 'Faed': [605], 'MJW,': [606], 'Pringle': [607], 'T,': [608, 710, 798, 804, 856], 'Baines': [609], 'P,': [610], 'Dean': [611], 'M': [614], 'Ascertainment': [616], 'severity': [618], 'Scottish': [624], 'population.': [625], 'J': [626, 653, 693, 712, 766, 835], 'Med': [627, 654, 767], '31:': [629, 656], '51–': [630], '54.': [631], 'Hewett': [632], 'DR,': [633], 'Lynch': [634, 705, 741], 'Child': [636], 'Sykes': [638, 707, 743], 'BC': [639], 'new': [642], 'patient': [649], 'syndrome.': [652, 728, 763, 789, 834], '338–': [657], 'Nijbroek': [659], 'Sood': [661, 771], 'S,': [662, 772], 'McIntosh': [663, 777], 'I,': [664, 778], 'CA,': [666], 'Bull': [667], 'E,': [668, 850], 'Pereira': [669, 699, 735], 'L,': [670, 700, 736], 'Ramirez': [671, 703, 739], 'F,': [672, 704, 740], 'HC': [676, 748, 780], 'Fifteen': [678], 'novel': [679, 830], 'mutations': [681], 'causing': [682], 'detected': [685], 'heteroduplex': [687], 'analysis': [688], 'genomic': [690], 'amplicons.': [691], 'Am': [692], '57:': [696], '8–': [697], '21.': [698], "D'Alessio": [701], 'B,': [708, 744], 'Pangilinan': [709], 'Bonadio': [711], 'Genomic': [714], 'organization': [715], 'sequence': [718], 'coding': [719], 'fibrillin,': [721], 'defective': [723], 'product': [725], '2:': [732], '961–': [733], '968.': [734], 'Levran': [737], 'molecular': [751], 'approach': [752], 'stratification': [755], 'cardiovascular': [757], 'risk': [758], 'families': [760], 'N': [764], 'Engl': [765], '331:': [768], '148–': [769], '153.': [770], 'Eldadah': [773], 'ZA,': [774], 'Krause': [775], 'WL,': [776], '(1996)': [781], 'Marfanoid-craniosynostosis': [787], '(Shprintzen-Goldberg)': [788], '12:': [792], '209–': [793], '211.': [794], 'Ståhl-Hallengren': [795], 'Ukkonen': [797], 'Kainulainen': [799], 'K,': [800, 806, 846, 848, 854], 'Kristofersson': [801], 'U,': [802], 'Saxne': [803], 'Tornqvist': [805], 'Peltonen': [807], 'L': [808], 'An': [810], 'extra': [811], 'cysteine': [812], 'one': [814], 'non-calcium-binding': [817], 'epidermal': [818], 'growth': [819], 'factor-like': [820], 'motifs': [821], 'polypeptide': [825], 'connected': [827], 'variant': [831], 'Clin': [836], 'Invest': [837], '94:': [838], '709–': [839], '713.': [840], 'Tassabehji': [841], 'Newton': [843], 'VE,': [844], 'Leverton': [845], 'Turnbull': [847], 'Seemanova': [849], 'Kunze': [851], 'Sperling': [853], 'Starchan': [855], 'Read': [857], 'AP': [858], 'PAX3': [860], 'mutations:': [864], 'Close': [865], 'analogies': [866], 'between': [867], 'Waardenburg': [868], 'Splotch': [872], 'mouse.': [873], '3:': [877], '1069–': [878], '1074.': [879], 'Citing': [880], 'Literature': [881], 'Volume11,': [882], 'IssueS1Supplement:': [883], 'Mutation1998Pages': [885], 'ReferencesRelatedInformation': [887]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1964724190', 'counts_by_year': [{'year': 2023, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-08T18:29:51.729525', 'created_date': '2016-06-24'}