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Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

✍ Scribed by RamShankar, M. (author);Girirajan, S. (author);Dagan, O. (author);Ravi Shankar, H. M. (author);Jalvi, R. (author);Rangasayee, R. (author);Avraham, K. B. (author);Anand, A. (author)

Book ID: 121879962
Publisher: BMJ Publishing Group
Year: 2003
Tongue: English
Weight: 607 KB
Volume: 40
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmg.40.5.e68

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Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.