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Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) o...

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Autors principals: Kremer, B, Almqvist, E, Theilmann, J, Spence, N, Telenius, H, Goldberg, Y P, Hayden, M R
Format: Artigo
Idioma:Inglês
Publicat: 1995
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801544/
https://ncbi.nlm.nih.gov/pubmed/7668260
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