Novel mutations in the USH1C gene in Usher syndrome patients

PURPOSE: Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protei...

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Main Authors: Aparisi, María José, García-García, Gema, Jaijo, Teresa, Rodrigo, Regina, Graziano, Claudio, Seri, Marco, Simsek, Tulay, Simsek, Enver, Bernal, Sara, Baiget, Montserrat, Pérez-Garrigues, Herminio, Aller, Elena, Millán, José María
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2010
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3013073/
https://ncbi.nlm.nih.gov/pubmed/21203349
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