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An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or second (USH2) decade. In most populations, diagnostic testing is hampered by a mu...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Ebermann, Inga, Koenekoop, Robert K, Lopez, Irma, Bou-Khzam, Lara, Pigeon, Renée, Bolz, Hanno J
التنسيق: Artigo
اللغة:Inglês
منشور في: Nature Publishing Group 2009
الموضوعات:
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985947/
https://ncbi.nlm.nih.gov/pubmed/18665195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.143
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