A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the h...

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Detalhes bibliográficos
Main Authors: Van Laer, L, Coucke, P, Mueller, R, Caethoven, G, Flothmann, K, Prasad, S, Chamberlin, G, Houseman, M, Taylor, G, Van de Heyning, C M, Fransen, E, Rowland, J, Cucci, R, Smith, R, Van Camp, G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734914/
https://ncbi.nlm.nih.gov/pubmed/11483639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.8.515
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