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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li, Qiong; Wang, Shujuan; Liang, Pengfei; Li, Wei; Wang, Jian; Fan, Bei; Yang, Yang; An, Xiaogang; Chen, Jun; Zha, Dingjun.
Afiliação
  • Li Q; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Wang S; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Liang P; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Li W; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Wang J; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Fan B; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Yang Y; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • An X; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China.
  • Chen J; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China. edondongcccj@aliyun.com.
  • Zha D; Department of Otolaryngology-Head and Neck Surgery, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an, 710032, Shaanxi, People's Republic of China. zhadjun@fmmu.edu.cn.
BMC Med Genomics ; 15(1): 163, 2022 07 21.
Article em En | MEDLINE | ID: mdl-35864542
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Limite: Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Limite: Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article