FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family. The mutation leads to exon skipping and deletion...

詳細記述

保存先:
書誌詳細
主要な著者: Diaz-Horta, Oscar, Subasioglu-Uzak, Asli, Grati, M’hamed, DeSmidt, Alexandra, Foster, Joseph, Cao, Lei, Bademci, Guney, Tokgoz-Yilmaz, Suna, Duman, Duygu, Cengiz, F. Basak, Abad, Clemer, Mittal, Rahul, Blanton, Susan, Liu, Xue Z., Farooq, Amjad, Walz, Katherina, Lu, Zhongmin, Tekin, Mustafa
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2014
主題:
Biological Sciences
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4103326/
https://ncbi.nlm.nih.gov/pubmed/24958875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1401950111
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料