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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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha: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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