Article
Failure to confirm influence of methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease.
Journal of negative results in biomedicine - 22 Dec 2005
Hansen Wiebke, Saft Carsten, Andrich Jürgen, Müller Thomas, Wieczorek Stefan, Epplen Jörg T, Arning Larissa
Abstract excerpt
BACKGROUND: Huntington disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of repeat units is highly predictive for the age at onset (AO) of the disorder. But AO is only modestly correlated with repeat length when intermediate HD expansions are considered. Recently, suggestive...
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