Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing

<p>Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and vDFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture...

詳細記述

保存先:
書誌詳細
主要な著者: Xue Gao (著者), Sha-Sha Huang (著者), Yu Su (著者), Jin-Cao Xu (著者), Pu Dai (著者)
フォーマット: 図書
出版事項: Scientific Journal of Genetics and Gene Therapy - Peertechz Publications, 2016-07-08.
主題:
オンライン・アクセス:Connect to this object online.
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!

インターネット

Connect to this object online.

3rd Floor Main Library

予約・返却請求 3rd Floor Main Library
請求記号: A1234.567
所蔵 1 利用可