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[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

Biomedica : revista del Instituto Nacional de Salud - 1 Mar 2011

López Greizy, Gelvez Nancy Yaneth, Tamayo Martalucía

Abstract excerpt

INTRODUCTION: Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene. OBJECTIVE: The aim of the study...

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Identifiers

PMID: 22159486
DOI: 10.1590/S0120-41572011000100010

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[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].PMID 22159486Read ↗

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