The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

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...

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Hlavní autoři: García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3580968/
https://ncbi.nlm.nih.gov/pubmed/23441107
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