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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

Huntington disease (HD) is associated with abnormal expansions of a CAG repeat close to the 5′ end of the IT15 gene. We have assembled a set of 293 HD subjects whose ages of onset were known and sized their HD CAG repeats. These repeats accounted for 69% of the variance of age of onset when we used...

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Detalhes bibliográficos
Main Authors: Rubinsztein, David C., Leggo, Jayne, Chiano, Mathias, Dodge, Alan, Norbury, Gail, Rosser, Elisabeth, Craufurd, David
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences of the USA 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC20534/
https://ncbi.nlm.nih.gov/pubmed/9108071
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