Article
A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Retina (Philadelphia, Pa.) - 1 Oct 2006
Pajic Bojan, Weigell-Weber Maike, Schipper Isaak, Kryenbühl Christoph, Büchi Ernst R, Spiegel Roland, Hergersberg Martin
Abstract excerpt
PURPOSE: To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. METHODS: Clinical data were collected from family members of a large Swiss family affected by autosomal dominant retinal pattern dystrophy. Single strand conformation polymorphism (SSCP) analysis of the candidate gene peripherin/RDS and subsequent...
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