Huntington Disease without CAG Expansion: Phenocopies or Errors in Assignment?

Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range. The reasons for not observing expansion in affected individuals ar...

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Detalhes bibliográficos
Main Authors: Andrew, Susan E., Goldberg, Y. Paul, Kremer, Berry, Squitieri, Ferdinando, Theilmann, Jane, Zeisler, Jutta, Telenius, Håkan, Adam, Shelin, Almquist, Elisabeth, Anvret, Maria, Lucotte, Gerard, Stoessl, A. Jon, Campanella, Giuseppe, Hayden, Michael R.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918249/
https://ncbi.nlm.nih.gov/pubmed/8178825
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