CNGA3 mutations in two United Arab Emirates families with achromatopsia

PURPOSE: Achromatopsia results from mutations in one of three genes: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two...

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Bibliographic Details
Main Authors: Ahuja, Yachna, Kohl, Susanne, Traboulsi, Elias I.
Format: Artigo
Language:Inglês
Published: Molecular Vision 2008
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2464613/
https://ncbi.nlm.nih.gov/pubmed/18636117
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