Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

BACKGROUND: Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. METHODS: To identify the genetic cau...

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Detalhes bibliográficos
Main Authors: Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3207874/
https://ncbi.nlm.nih.gov/pubmed/22004887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-65
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