Article
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Molecular vision - 28 Jun 2007
Gamundi María José, Hernan Imma, Muntanyola Marta, Trujillo María José, García-Sandoval Blanca, Ayuso Carmen, Baiget Montserrat, Carballo Miguel
Abstract excerpt
PURPOSE: Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy. METHODS: Ophthalmic and electrophysiological examination was performed in patients from 61...
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