Article
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Molecular vision - 1 Jan 2013
García-García Gema, Besnard Thomas, Baux David, Vaché Christel, Aller Elena, Malcolm Sue, Claustres Mireille, Millan Jose M, Roux Anne-Françoise
Abstract excerpt
BACKGROUND: Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and retinitis pigmentosa. To date, three disease-causing genes have been identified, USH2A, GPR98, and DFNB31, of which USH2A is clearly the major contributor. The aim of this work was to determine the contribution of GPR98 and DFNB31 genes in a Spanish cohort of USH2A negative patients...
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