Article
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Molecular vision - 2 Oct 2007
Boulouiz Redouane, Li Yun, Abidi Omar, Bolz Hanno, Chafik Abdelaziz, Kubisch Christian, Roub Hassan, Wollnik Bernd, Barakat Abdelhamid
Abstract excerpt
PURPOSE: Mutations in the MYO7A gene are responsible for Usher syndrome type 1B (USH1B), the most common USH1 subtype, which accounts for the largest proportion of USH1 cases in most populations. Molecular genetic diagnosis in Usher syndrome is well established and identification of the underlying mutations in Usher patients is important for confirmation of the clinical diagnosis and genetic counseling. METHODS:...
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