Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

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...

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Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2010
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2845667/
https://ncbi.nlm.nih.gov/pubmed/20352026
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