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GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

✍ Scribed by Rikkert L. Snoeckx; Bulantrisna Djelantik; Lut Van Laer; Paul Van de Heyning; Guy Van Camp


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
66 KB
Volume
135A
Category
Article
ISSN
1552-4825

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πŸ“œ SIMILAR VOLUMES


Clinical phenotype and mutations in conn
✍ Cohn, Edward S.; Kelley, Philip M. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 45 KB πŸ‘ 2 views

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.

Identification of mutations in the conne
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 223 KB πŸ‘ 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc