載入...

Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause autosomal recessive nonsyndromic hearing loss. Only a minority has been assoc...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Bazazzadegan, Niloofar, Sheffield, Abraham M., Sobhani, Masoomeh, Kahrizi, Kimia, Meyer, Nicole C, Van Camp, Guy, Hilgert, Nele, Abedini, Seyedeh Sedigheh, Habibi, Farkhondeh, Daneshi, Ahmad, Nishimura, Carla, Avenarius, Matthew R., Farhadi, Mohammad, Smith, Richard J.H., Najmabadi, Hossein
格式: Artigo
語言:Inglês
出版: 2011
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080436/
https://ncbi.nlm.nih.gov/pubmed/21484990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33209
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!