CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup

Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with <36 CAG repeats. This study is a comprehensive analysis of genetic diver...

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Hlavní autoři: Warby, Simon C., Montpetit, Alexandre, Hayden, Anna R., Carroll, Jeffrey B., Butland, Stefanie L., Visscher, Henk, Collins, Jennifer A., Semaka, Alicia, Hudson, Thomas J., Hayden, Michael R.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668007/
https://ncbi.nlm.nih.gov/pubmed/19249009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.02.003
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