GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non-syndromic sensorineural deafness, who were ascertained through the only residential school for deaf in Mongolia and in 217 hearing controls. Twenty different alleles, including four novel changes, were i...

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Detalhes bibliográficos
Publicado no:Ann Hum Genet
Main Authors: Tekin, Mustafa, Xia, Xia-Juan, Erdenetungalag, Radnaabazar, Cengiz, F. Basak, White, Thomas W., Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Tastan, Hakki, Nance, Walter E., Pandya, Arti
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4739516/
https://ncbi.nlm.nih.gov/pubmed/20201936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2010.00564.x
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