Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W320350796', 'doi': 'https://doi.org/10.1097/00029330-200607020-00015', 'title': 'Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma', 'display_name': 'Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma', 'publication_year': 2006, 'publication_date': '2006-07-01', 'ids': {'openalex': 'https://openalex.org/W320350796', 'doi': 'https://doi.org/10.1097/00029330-200607020-00015', 'mag': '320350796', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/16863615'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1097/00029330-200607020-00015', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S22240167', 'display_name': 'Chinese Medical Journal', 'issn_l': '0366-6999', 'issn': ['0366-6999', '2542-5641'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', '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': 'gold', 'oa_url': 'https://doi.org/10.1097/00029330-200607020-00015', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5022962900', 'display_name': 'Yehong Zhuo', 'orcid': 'https://orcid.org/0000-0003-3247-7199'}, 'institutions': [{'id': 'https://openalex.org/I1327237609', 'display_name': "Ministry of Education of the People's Republic of China", 'ror': 'https://ror.org/01mv9t934', 'country_code': 'CN', 'type': 'government', 'lineage': ['https://openalex.org/I1327237609', 'https://openalex.org/I4210127390']}, {'id': 'https://openalex.org/I157773358', 'display_name': 'Sun Yat-sen University', 'ror': 'https://ror.org/0064kty71', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I157773358']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ye-hong ZHUO', 'raw_affiliation_strings': ['Edited by', 'Key Laboratory of Ophthalmology, Ministry of Education', 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)'], 'affiliations': [{'raw_affiliation_string': 'Edited by', 'institution_ids': []}, {'raw_affiliation_string': 'Key Laboratory of Ophthalmology, Ministry of Education', 'institution_ids': ['https://openalex.org/I1327237609']}, {'raw_affiliation_string': 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)', 'institution_ids': ['https://openalex.org/I157773358']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043773845', 'display_name': 'Mei Wang', 'orcid': 'https://orcid.org/0000-0003-3287-0046'}, 'institutions': [{'id': 'https://openalex.org/I1327237609', 'display_name': "Ministry of Education of the People's Republic of China", 'ror': 'https://ror.org/01mv9t934', 'country_code': 'CN', 'type': 'government', 'lineage': ['https://openalex.org/I1327237609', 'https://openalex.org/I4210127390']}, {'id': 'https://openalex.org/I157773358', 'display_name': 'Sun Yat-sen University', 'ror': 'https://ror.org/0064kty71', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I157773358']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Mei WANG', 'raw_affiliation_strings': ['Edited by', 'Key Laboratory of Ophthalmology, Ministry of Education', 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Ophthalmology, Ministry of Education', 'institution_ids': ['https://openalex.org/I1327237609']}, {'raw_affiliation_string': 'Edited by', 'institution_ids': []}, {'raw_affiliation_string': 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)', 'institution_ids': ['https://openalex.org/I157773358']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102875342', 'display_name': 'Yantao Wei', 'orcid': 'https://orcid.org/0000-0002-0240-2973'}, 'institutions': [{'id': 'https://openalex.org/I1327237609', 'display_name': "Ministry of Education of the People's Republic of China", 'ror': 'https://ror.org/01mv9t934', 'country_code': 'CN', 'type': 'government', 'lineage': ['https://openalex.org/I1327237609', 'https://openalex.org/I4210127390']}, {'id': 'https://openalex.org/I157773358', 'display_name': 'Sun Yat-sen University', 'ror': 'https://ror.org/0064kty71', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I157773358']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Yan-tao WEI', 'raw_affiliation_strings': ['Edited by', 'Key Laboratory of Ophthalmology, Ministry of Education', 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Ophthalmology, Ministry of Education', 'institution_ids': ['https://openalex.org/I1327237609']}, {'raw_affiliation_string': 'Edited by', 'institution_ids': []}, {'raw_affiliation_string': 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)', 'institution_ids': ['https://openalex.org/I157773358']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101669175', 'display_name': 'Yalin Huang', 'orcid': 'https://orcid.org/0009-0001-0671-689X'}, 'institutions': [{'id': 'https://openalex.org/I1327237609', 'display_name': "Ministry of Education of the People's Republic of China", 'ror': 'https://ror.org/01mv9t934', 'country_code': 'CN', 'type': 'government', 'lineage': ['https://openalex.org/I1327237609', 'https://openalex.org/I4210127390']}, {'id': 'https://openalex.org/I157773358', 'display_name': 'Sun Yat-sen University', 'ror': 'https://ror.org/0064kty71', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I157773358']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ya-lin HUANG', 'raw_affiliation_strings': ['Edited by', 'Key Laboratory of Ophthalmology, Ministry of Education', 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Ophthalmology, Ministry of Education', 'institution_ids': ['https://openalex.org/I1327237609']}, {'raw_affiliation_string': 'Edited by', 'institution_ids': []}, {'raw_affiliation_string': 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)', 'institution_ids': ['https://openalex.org/I157773358']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5100758719', 'display_name': 'Jian Ge', 'orcid': 'https://orcid.org/0000-0001-5165-3368'}, 'institutions': [{'id': 'https://openalex.org/I157773358', 'display_name': 'Sun Yat-sen University', 'ror': 'https://ror.org/0064kty71', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I157773358']}, {'id': 'https://openalex.org/I1327237609', 'display_name': "Ministry of Education of the People's Republic of China", 'ror': 'https://ror.org/01mv9t934', 'country_code': 'CN', 'type': 'government', 'lineage': ['https://openalex.org/I1327237609', 'https://openalex.org/I4210127390']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'Jian GE', 'raw_affiliation_strings': ['Edited by', 'Key Laboratory of Ophthalmology, Ministry of Education', 'Prof. GE Jian, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Tel: 86–20–87331374. Fax: 86–20–87333271. Email: [email\xa0protected]) This work was supported by a grant from the Foundation for Authors of National Excellent Doctoral Dissertation of China (No. 200363).', 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)'], 'affiliations': [{'raw_affiliation_string': 'Prof. GE Jian, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Tel: 86–20–87331374. Fax: 86–20–87333271. Email: [email\xa0protected]) This work was supported by a grant from the Foundation for Authors of National Excellent Doctoral Dissertation of China (No. 200363).', 'institution_ids': ['https://openalex.org/I157773358']}, {'raw_affiliation_string': 'Key Laboratory of Ophthalmology, Ministry of Education', 'institution_ids': ['https://openalex.org/I1327237609']}, {'raw_affiliation_string': 'Edited by', 'institution_ids': []}, {'raw_affiliation_string': 'Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China (Zhuo YH, Wei YT, Huang YL and Ge J)', 'institution_ids': ['https://openalex.org/I157773358']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': ['https://openalex.org/A5100758719'], 'corresponding_institution_ids': ['https://openalex.org/I157773358', 'https://openalex.org/I1327237609'], 'apc_list': {'value': 2000, 'currency': 'USD', 'value_usd': 2000, 'provenance': 'doaj'}, 'apc_paid': {'value': 2000, 'currency': 'USD', 'value_usd': 2000, 'provenance': 'doaj'}, 'fwci': 2.284, 'has_fulltext': False, 'cited_by_count': 30, 'citation_normalized_percentile': {'value': 0.893377, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 90, 'max': 91}, 'biblio': {'volume': '119', 'issue': '14', 'first_page': '1210', 'last_page': '1214'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10250', 'display_name': 'Global Prevalence and Treatment of Glaucoma', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2731', 'display_name': 'Ophthalmology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10250', 'display_name': 'Global Prevalence and Treatment of Glaucoma', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/2731', 'display_name': 'Ophthalmology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11131', 'display_name': 'Role of Extracellular Matrix in Biological Signaling', 'score': 0.9925, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/T10169', 'display_name': 'Molecular Mechanisms of Ras Signaling Pathways', 'score': 0.9842, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/myocilin', 'display_name': 'Myocilin', 'score': 0.95800996}, {'id': 'https://openalex.org/keywords/proband', 'display_name': 'Proband', 'score': 0.79645795}, {'id': 'https://openalex.org/keywords/primary-open-angle-glaucoma', 'display_name': 'Primary Open-Angle Glaucoma', 'score': 0.552713}], 'concepts': [{'id': 'https://openalex.org/C2781147369', 'wikidata': 'https://www.wikidata.org/wiki/Q18029808', 'display_name': 'Myocilin', 'level': 4, 'score': 0.95800996}, {'id': 'https://openalex.org/C188997412', 'wikidata': 'https://www.wikidata.org/wiki/Q1640386', 'display_name': 'Proband', 'level': 4, 'score': 0.79645795}, {'id': 'https://openalex.org/C2778527774', 'wikidata': 'https://www.wikidata.org/wiki/Q159701', 'display_name': 'Glaucoma', 'level': 2, 'score': 0.7771762}, {'id': 'https://openalex.org/C2991803831', 'wikidata': 'https://www.wikidata.org/wiki/Q159701', 'display_name': 'Open angle glaucoma', 'level': 3, 'score': 0.6810926}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.53704613}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.51665854}, {'id': 'https://openalex.org/C118487528', 'wikidata': 'https://www.wikidata.org/wiki/Q161437', 'display_name': 'Ophthalmology', 'level': 1, 'score': 0.48816735}, {'id': 'https://openalex.org/C2994225774', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Gene mutation', 'level': 4, 'score': 0.47512776}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.4556421}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.45314652}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.38160414}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.30908236}], 'mesh': [{'descriptor_ui': 'D003598', 'descriptor_name': 'Cytoskeletal Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005136', 'descriptor_name': 'Eye Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005901', 'descriptor_name': 'Glaucoma', 'qualifier_ui': 'Q000151', 'qualifier_name': 'congenital', 'is_major_topic': True}, {'descriptor_ui': 'D005902', 'descriptor_name': 'Glaucoma, Open-Angle', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006023', 'descriptor_name': 'Glycoproteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D003598', 'descriptor_name': 'Cytoskeletal Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005136', 'descriptor_name': 'Eye Proteins', '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': 'D005901', 'descriptor_name': 'Glaucoma', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005901', 'descriptor_name': 'Glaucoma', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005902', 'descriptor_name': 'Glaucoma, Open-Angle', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006023', 'descriptor_name': 'Glycoproteins', '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': 'D007438', 'descriptor_name': 'Introns', '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': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1097/00029330-200607020-00015', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S22240167', 'display_name': 'Chinese Medical Journal', 'issn_l': '0366-6999', 'issn': ['0366-6999', '2542-5641'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/16863615', '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/10.1097/00029330-200607020-00015', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S22240167', 'display_name': 'Chinese Medical Journal', 'issn_l': '0366-6999', 'issn': ['0366-6999', '2542-5641'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.54, 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 23, 'referenced_works': ['https://openalex.org/W1540655832', 'https://openalex.org/W169484953', 'https://openalex.org/W1989399186', 'https://openalex.org/W1989826847', 'https://openalex.org/W2002807963', 'https://openalex.org/W2017996813', 'https://openalex.org/W2030820499', 'https://openalex.org/W2030878148', 'https://openalex.org/W2031264242', 'https://openalex.org/W2035641748', 'https://openalex.org/W2046406265', 'https://openalex.org/W2052283113', 'https://openalex.org/W205401210', 'https://openalex.org/W2065309881', 'https://openalex.org/W2087510669', 'https://openalex.org/W2088832238', 'https://openalex.org/W2092264087', 'https://openalex.org/W2100159037', 'https://openalex.org/W21253511', 'https://openalex.org/W2141595657', 'https://openalex.org/W2146884008', 'https://openalex.org/W2364089823', 'https://openalex.org/W62854991'], 'related_works': ['https://openalex.org/W948049675', 'https://openalex.org/W4252475848', 'https://openalex.org/W2253209791', 'https://openalex.org/W2110693914', 'https://openalex.org/W2043296191', 'https://openalex.org/W2031264242', 'https://openalex.org/W1976551978', 'https://openalex.org/W1971485090', 'https://openalex.org/W1549281585', 'https://openalex.org/W1204364966'], 'abstract_inverted_index': {'Background': [0], 'Glaucoma': [1], 'is': [2, 27, 206, 214], 'one': [3], 'of': [4, 8, 24, 57, 67, 77, 87, 102, 154, 171, 203], 'the': [5, 11, 28, 65, 78, 88, 91, 122, 139, 142, 149, 152, 155, 177, 180, 183, 187, 190, 195, 217], 'leading': [6], 'causes': [7], 'blindness': [9], 'in': [10, 35, 43, 69, 129, 138, 168, 176, 200, 208, 222], 'world.': [12], 'Primary': [13], 'open-angle': [14], 'glaucoma': [15, 20, 52], '(POAG)': [16], 'and': [17, 60, 63, 82, 99, 114, 151, 182, 189, 211, 224], 'primary': [18], 'congenital': [19], '(PCG)': [21], 'are': [22], 'subtypes': [23], 'glaucoma.': [25], 'Myocillin': [26], 'first': [29], 'gene': [30, 104, 173, 205], 'identified': [31], 'to': [32], 'be': [33, 220], 'involved': [34, 207], 'POAG.': [36], 'Recently,': [37], 'myocillin': [38, 68], 'mutation': [39, 66, 199], 'has': [40], 'been': [41], 'found': [42], 'PCG.': [44, 212, 225], 'In': [45], 'this': [46, 70], 'context,': [47], 'we': [48], 'reported': [49], 'a': [50, 80, 83], 'special': [51], 'pedigree,': [53], 'which': [54], 'was': [55, 75, 121, 125, 134, 145], 'composed': [56, 76], 'both': [58, 130, 209], 'PCG': [59, 128], 'POAG': [61, 137, 210, 223], 'patients,': [62], 'analyzed': [64], 'pedigree.': [71], 'Methods': [72], 'The': [73, 119, 132, 166], 'family': [74, 89], 'parents,': [79], 'son': [81, 120], 'daughter.': [84], 'All': [85, 95], 'members': [86], 'underwent': [90], 'complete': [92], 'ophthalmologic': [93], 'examinations.': [94], 'coding': [96], 'exons': [97], '1–3': [98], 'flanking': [100], 'introns': [101], 'myocilin': [103, 172, 204], 'were': [105, 174, 185, 192], 'screened': [106], 'for': [107, 194], 'sequence': [108], 'alterations': [109], 'by': [110], 'polymerase': [111], 'chain': [112], 'reaction': [113], 'direct': [115], 'DNA': [116], 'sequencing.': [117], 'Results': [118], 'proband,': [123], 'who': [124], 'diagnosed': [126, 135], 'as': [127, 136], 'eyes.': [131], 'father': [133, 184], 'right': [140], 'eye,': [141], 'left': [143], 'eye': [144], 'still': [146], 'normal.': [147], 'Both': [148], 'sister': [150, 191], 'mother': [153, 188], 'proband': [156, 181], 'had': [157], 'normal': [158], 'intraocular': [159], 'pressure': [160], 'without': [161], 'glaucomatous': [162], 'optic': [163], 'disc': [164], 'changes.': [165], 'mutations': [167], 'intron': [169, 201], '2': [170, 202], 'detected': [175], 'family.': [178], 'While': [179], 'homozygous,': [186], 'heterozygous': [193], 'mutation.': [196], 'Conclusions': [197], 'Homozygous': [198], 'It': [213], 'suggested': [215], 'that': [216], 'pathogenesis': [218], 'might': [219], 'overlapping': [221]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W320350796', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 2}, {'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 2}], 'updated_date': '2024-09-23T20:57:23.454900', 'created_date': '2016-06-24'}