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Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.

Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the IT15 gene. This trinucleotide repeat has been studied by polymerase chain reaction amplification in 86 members of 43 Spanish families with Huntington's disease and...

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Detalhes bibliográficos
Main Authors: Sánchez, A, Castellví-Bel, S, Milà, M, Genis, D, Calopa, M, Jiménez, D, Estivill, X
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC486660/
https://ncbi.nlm.nih.gov/pubmed/8971113
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