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

• Asıl Yazarlar: Xue Gao (Yazar), Sha-Sha Huang (Yazar), Yu Su (Yazar), Jin-Cao Xu (Yazar), Pu Dai (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Scientific Journal of Genetics and Gene Therapy - Peertechz Publications, 2016-07-08.
• Konular: Research Article
• Online Erişim: 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...