Publication Information

{'id': 'https://openalex.org/W2142524353', 'doi': 'https://doi.org/10.1002/ajmg.a.32461', 'title': 'A de novo <i>GJB2</i> (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma', 'display_name': 'A de novo <i>GJB2</i> (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma', 'publication_year': 2008, 'publication_date': '2008-10-16', 'ids': {'openalex': 'https://openalex.org/W2142524353', 'doi': 'https://doi.org/10.1002/ajmg.a.32461', 'mag': '2142524353', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/18924167'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1002/ajmg.a.32461', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S180901878', 'display_name': 'American Journal of Medical Genetics Part A', 'issn_l': '1552-4825', 'issn': ['1552-4825', '1552-4833'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 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Yuan', 'raw_affiliation_strings': ["Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China."], 'affiliations': [{'raw_affiliation_string': "Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China.", 'institution_ids': ['https://openalex.org/I2802939634']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5022725054', 'display_name': 'Deliang Huang', 'orcid': 'https://orcid.org/0000-0002-6154-017X'}, 'institutions': [{'id': 'https://openalex.org/I2802939634', 'display_name': 'Chinese PLA General Hospital', 'ror': 'https://ror.org/04gw3ra78', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802939634']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Deliang Huang', 'raw_affiliation_strings': ["Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China."], 'affiliations': [{'raw_affiliation_string': "Department of 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[601, 962, 1041, 1269, 1343], 'TW,': [602, 963, 1042, 1048, 1270], 'Paul': [603, 970, 1049, 1273], 'DL.': [604, 1274], '1996.': [605, 1116], 'Connections': [606], 'connexins:': [608], 'The': [609, 629, 697, 1117, 1180, 1276], 'molecular': [610], 'basis': [611], 'direct': [613], 'intercellular': [614, 1280], 'signaling.': [615], 'Eur': [616], 'Biochem': [618], '238:': [619], '1–27.': [620], 'Chang': [621], 'EH,': [622], 'Van': [623, 806, 880], 'Camp': [624, 807], 'Smith': [626, 804, 911, 964], 'RJH.': [627], 'role': [630], 'connexins': [632], 'human': [634], 'disease.': [635], 'Ear': [636], 'Hearing': [637], '24:': [638], '314–323.': [639], 'Cohn': [640], 'ES,': [641], 'Kelley': [642], 'PM.': [643], '1999.': [644], 'Clinical': [645], 'phenotype': [646], 'mutations': [648, 830, 948, 1022], 'connexin': [650, 858, 1070, 1230, 1252, 1277], '26(DFNB1/GJB2),': [651], 'most': [653], 'common': [654], 'cause': [655, 1027], 'childhood': [657], 'loss.': [659], '130–136.': [665], 'B,': [671], 'Li': 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