Article
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Molecular vision - 23 Mar 2010
Aller Elena, Jaijo Teresa, van Wijk Erwin, Ebermann Inga, Kersten Ferry, García-García Gema, Voesenek Krysta, Aparisi María José, Hoefsloot Lies, Cremers Cor, Díaz-Llopis Manuel, Pennings Ronald, Bolz Hanno J, Kremer Hannie, Millán José M
Abstract excerpt
PURPOSE: It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. METHODS: DFNB31 was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.