Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2033080597', 'doi': 'https://doi.org/10.1016/j.gene.2012.01.063', 'title': 'A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy', 'display_name': 'A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy', 'publication_year': 2012, 'publication_date': '2012-04-01', 'ids': {'openalex': 'https://openalex.org/W2033080597', 'doi': 'https://doi.org/10.1016/j.gene.2012.01.063', 'mag': '2033080597', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/22326269'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.gene.2012.01.063', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S75702506', 'display_name': 'Gene', 'issn_l': '0378-1119', 'issn': ['0378-1119', '1879-0038'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5014211951', 'display_name': 'Jeong A Park', 'orcid': 'https://orcid.org/0000-0003-3690-6747'}, 'institutions': [{'id': 'https://openalex.org/I4210102912', 'display_name': 'Inje University Haeundae Paik Hospital', 'ror': 'https://ror.org/019641589', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210102912']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Jeong A. Park', 'raw_affiliation_strings': ['Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea', 'institution_ids': ['https://openalex.org/I4210102912']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068949868', 'display_name': 'Kyung Ran Jun', 'orcid': 'https://orcid.org/0000-0001-8904-2327'}, 'institutions': [{'id': 'https://openalex.org/I4210102912', 'display_name': 'Inje University Haeundae Paik Hospital', 'ror': 'https://ror.org/019641589', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210102912']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Kyung Ran Jun', 'raw_affiliation_strings': ['Department of Laboratory Medicines, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Laboratory Medicines, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea', 'institution_ids': ['https://openalex.org/I4210102912']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5018474898', 'display_name': 'Sung‐Hee Han', 'orcid': 'https://orcid.org/0000-0003-0825-6687'}, 'institutions': [{'id': 'https://openalex.org/I4210087913', 'display_name': 'Seoul Medical Center', 'ror': 'https://ror.org/002nav185', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210087913']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Sung-Hee Han', 'raw_affiliation_strings': ['Seoul Medical Science Institute, Seoul Clinical Laboratories, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Seoul Medical Science Institute, Seoul Clinical Laboratories, Republic of Korea', 'institution_ids': ['https://openalex.org/I4210087913']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5014622502', 'display_name': 'Gu-Hwan Kim', 'orcid': 'https://orcid.org/0000-0002-7056-7446'}, 'institutions': [{'id': 'https://openalex.org/I2801680663', 'display_name': 'Asan Medical Center', 'ror': 'https://ror.org/03s5q0090', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801680663']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Gu-Hwan Kim', 'raw_affiliation_strings': ['Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea', 'institution_ids': ['https://openalex.org/I2801680663']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5014016038', 'display_name': 'Han‐Wook Yoo', 'orcid': 'https://orcid.org/0000-0001-8615-186X'}, 'institutions': [{'id': 'https://openalex.org/I2801680663', 'display_name': 'Asan Medical Center', 'ror': 'https://ror.org/03s5q0090', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801680663']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Han-Wook Yoo', 'raw_affiliation_strings': ['Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Medical Genetics Center, Asan Medical Center, Seoul, Republic of Korea', 'institution_ids': ['https://openalex.org/I2801680663']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5073615530', 'display_name': 'Yun Jung Hur', 'orcid': 'https://orcid.org/0000-0002-7633-925X'}, 'institutions': [{'id': 'https://openalex.org/I4210102912', 'display_name': 'Inje University Haeundae Paik Hospital', 'ror': 'https://ror.org/019641589', 'country_code': 'KR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210102912']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Yun Jung Hur', 'raw_affiliation_strings': ['Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea', 'institution_ids': ['https://openalex.org/I4210102912']}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2940, 'currency': 'USD', 'value_usd': 2940, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.135, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 3, 'citation_normalized_percentile': {'value': 0.522819, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 76, 'max': 78}, 'biblio': {'volume': '498', 'issue': '1', 'first_page': '131', 'last_page': '133'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11072', 'display_name': 'Peroxisome Proliferator-Activated Receptors', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, '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/T11072', 'display_name': 'Peroxisome Proliferator-Activated Receptors', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, '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/T11027', 'display_name': 'Metabolic Disorders and Biochemical Genetics', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/1308', 'display_name': 'Clinical Biochemistry'}, '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/T11457', 'display_name': 'Brown Adipose Tissue Function and Physiology', 'score': 0.9976, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, '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/adrenoleukodystrophy', 'display_name': 'Adrenoleukodystrophy', 'score': 0.988219}, {'id': 'https://openalex.org/keywords/inborn-errors-of-metabolism', 'display_name': 'Inborn Errors of Metabolism', 'score': 0.512077}], 'concepts': [{'id': 'https://openalex.org/C2777150068', 'wikidata': 'https://www.wikidata.org/wiki/Q366964', 'display_name': 'Adrenoleukodystrophy', 'level': 4, 'score': 0.988219}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.9240513}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.8330464}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.79459286}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.7269656}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.647722}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.6340031}, {'id': 'https://openalex.org/C127078168', 'wikidata': 'https://www.wikidata.org/wiki/Q138639', 'display_name': 'Peroxisome', 'level': 3, 'score': 0.08384752}], 'mesh': [{'descriptor_ui': 'D018528', 'descriptor_name': 'ATP-Binding Cassette Transporters', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000326', 'descriptor_name': 'Adrenoleukodystrophy', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000074063', 'descriptor_name': 'ATP Binding Cassette Transporter, Subfamily D, Member 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D018528', 'descriptor_name': 'ATP-Binding Cassette Transporters', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000326', 'descriptor_name': 'Adrenoleukodystrophy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000326', 'descriptor_name': 'Adrenoleukodystrophy', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D019943', 'descriptor_name': 'Amino Acid Substitution', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001921', 'descriptor_name': 'Brain', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', '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': 'D017931', 'descriptor_name': 'DNA Primers', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017931', 'descriptor_name': 'DNA Primers', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017809', 'descriptor_name': 'Fatal Outcome', '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': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008279', 'descriptor_name': 'Magnetic Resonance Imaging', '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': 'D056910', 'descriptor_name': 'Republic of Korea', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.gene.2012.01.063', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S75702506', 'display_name': 'Gene', 'issn_l': '0378-1119', 'issn': ['0378-1119', '1879-0038'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/22326269', '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': None, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'score': 0.57, 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 19, 'referenced_works': ['https://openalex.org/W1481406810', 'https://openalex.org/W1606277396', 'https://openalex.org/W1845248138', 'https://openalex.org/W1985343258', 'https://openalex.org/W2030260114', 'https://openalex.org/W2037167329', 'https://openalex.org/W2054026377', 'https://openalex.org/W2060401928', 'https://openalex.org/W2065827337', 'https://openalex.org/W2080377006', 'https://openalex.org/W2095072855', 'https://openalex.org/W2103253464', 'https://openalex.org/W2134676206', 'https://openalex.org/W2138312139', 'https://openalex.org/W2147681614', 'https://openalex.org/W2155316089', 'https://openalex.org/W2159257506', 'https://openalex.org/W2168472266', 'https://openalex.org/W4231809167'], 'related_works': ['https://openalex.org/W4232163425', 'https://openalex.org/W2388007221', 'https://openalex.org/W2376483591', 'https://openalex.org/W2351545528', 'https://openalex.org/W2191712831', 'https://openalex.org/W2078203247', 'https://openalex.org/W2069150591', 'https://openalex.org/W2062840064', 'https://openalex.org/W1973922696', 'https://openalex.org/W1964168685'], 'abstract_inverted_index': {'X-linked': [0], 'adrenoleukodystrophy': [1, 15], '(ALD;': [2], 'MIM': [3], '#300100)': [4], 'is': [5, 96], 'a': [6, 39], 'neurodegenerative': [7], 'disorder': [8], 'caused': [9, 61], 'by': [10, 25, 62, 87], 'mutations': [11, 21], 'in': [12, 27, 33, 51, 70, 100], 'the': [13, 48, 88, 97], 'ABCD1': [14, 19, 49], 'protein': [16], 'gene.': [17], 'The': [18], 'gene': [20, 50], 'have': [22], 'been': [23], 'reported': [24], 'laboratories': [26], 'China': [28], 'and': [29, 54, 81, 90], 'Japan,': [30], 'but': [31], 'not': [32], 'Korea.': [34], 'This': [35, 76], 'case': [36], 'report': [37, 99], 'describes': [38], 'Korean': [40], 'boy': [41, 53], 'diagnosed': [42], 'with': [43], 'X-ALD.': [44], 'Direct': [45], 'sequencing': [46], 'for': [47], 'this': [52, 95], 'his': [55], 'mother': [56], 'detected': [57], 'Tyr620His': [58], 'missense': [59, 77], 'mutation,': [60], 'cDNA': [63], 'nucleotide': [64], 'change': [65], '1858': [66], 'T': [67], '>': [68, 74], 'C': [69], 'exon': [71], '8': [72], '(c.1858T': [73], 'C).': [75], 'variant': [78], 'was': [79], 'novel': [80], 'predicted': [82], 'to': [83], 'be': [84], 'possibly': [85], 'damaging': [86], 'PolyPhen': [89], 'SIFT': [91], 'prediction': [92], 'software.': [93], 'Moreover,': [94], 'first': [98], 'Korean.': [101]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2033080597', 'counts_by_year': [{'year': 2019, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 1}], 'updated_date': '2024-08-15T06:21:56.590434', 'created_date': '2016-06-24'}