Reduced penetrance alleles for Huntington's disease: a multi‐centre direct observational study

OBJECTIVE: To obtain penetrance data for Huntington's disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. METHOD: Data were collected anonymously on age of onset or age last known to be unaffected fr...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J
التنسيق: Artigo
اللغة:Inglês
منشور في: BMJ Group 2007
الموضوعات:
Electronic Letter
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598018/
https://ncbi.nlm.nih.gov/pubmed/17361007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045120
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