Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats

Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and HD-associated chromosomes. Most large analyses that defined the limits of the normal and pathological size ranges...

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Detalhes bibliográficos
Main Authors: Rubinsztein, David C., Leggo, Jayne, Coles, Rhian, Almqvist, Elisabeth, Biancalana, Valerie, Cassiman, Jean-Jacques, Chotai, Kokila, Connarty, Margaret, Craufurd, David, Curtis, Anne, Curtis, Diana, Davidson, Mark J., Differ, Anne-Marie, Dode, Catherine, Dodge, Alan, Frontali, Marina, Ranen, Neal G., Stine, O. Colin, Sherr, Meeia, Abbott, Margaret H., Franz, Mary L., Graham, Colin A., Harper, Peter S., Hedreen, John C., Jackson, Anthony, Kaplan, Jean-Claude, Losekoot, Monique, MacMillan, John C., Morrison, Patrick, Trottier, Yvon, Novelletto, Andrea, Simpson, Sheila A., Theilmann, Jane, Whittaker, Joanne L., Folstein, Susan E., Ross, Christopher A., Hayden, Michael R.
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915122/
https://ncbi.nlm.nih.gov/pubmed/8659522
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