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Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

✍ Scribed by Mani, Ram Shankar; Ganapathy, Aparna; Jalvi, Rajeev; Srikumari Srisailapathy, C R; Malhotra, Vikas; Chadha, Shelly; Agarwal, Arun; Ramesh, Arabandi; Rangasayee, Raghunath Rao; Anand, Anuranjan


Book ID
109847804
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
294 KB
Volume
17
Category
Article
ISSN
1018-4813

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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