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

• 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: Research Article
• オンライン･アクセス: Connect to this object online.

<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...