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Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." Studies indicate that DFNB1 (13q11-12) causes 20% of all childhood deafness and may have a carrier rate as high as 2. 8%. This study desc...

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Detalhes bibliográficos
Main Authors: Kelley, P M, Harris, D J, Comer, B C, Askew, J W, Fowler, T, Smith, S D, Kimberling, W J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377046/
https://ncbi.nlm.nih.gov/pubmed/9529365
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