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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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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
格式: Artigo
語言:Inglês
出版: BioMed Central 2011
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在線閱讀: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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