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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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Bibliografiska uppgifter
Huvudupphovsmän: Kelley, P M, Harris, D J, Comer, B C, Askew, J W, Fowler, T, Smith, S D, Kimberling, W J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1998
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377046/
https://ncbi.nlm.nih.gov/pubmed/9529365
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