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A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani...

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Bibliografske podrobnosti
Main Authors: Lench, N J, Markham, A F, Mueller, R F, Kelsell, D P, Smith, R J, Willems, P J, Schatteman, I, Capon, H, Van De Heyning, P J, Van Camp, G
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051221/
https://ncbi.nlm.nih.gov/pubmed/9507396
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