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Genetic mutations ofGJB2and mitochondrial12S rRNAin nonsyndromic hearing loss in Jiangsu Province of China

✍ Scribed by Qinjun Wei, Shuai Wang, Jun Yao, Yajie Lu, Zhibin Chen…

Book ID: 120690343
Publisher: BioMed Central
Year: 2013
Tongue: English
Weight: 289 KB
Volume: 11
Category: Article
ISSN: 1479-5876
DOI: 10.1186/1479-5876-11-163

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Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In additio