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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3013073/
https://ncbi.nlm.nih.gov/pubmed/21203349
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