Article
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
The British journal of ophthalmology - 1 Oct 2005
Schuster A, Weisschuh N, Jägle H, Besch D, Janecke A R, Zierler H, Tippmann S, Zrenner E, Wissinger B
Abstract excerpt
AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relatives were diagnosed...
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