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Huntington disease reduced penetrance alleles occur at high frequency in the general population

OBJECTIVE: To directly estimate the frequency and penetrance of CAG repeat alleles associated with Huntington disease (HD) in the general population. METHODS: CAG repeat length was evaluated in 7,315 individuals from 3 population-based cohorts from British Columbia, the United States, and Scotland....

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Publicat a:Neurology
Autors principals: Kay, Chris, Collins, Jennifer A., Miedzybrodzka, Zosia, Madore, Steven J., Gordon, Erynn S., Gerry, Norman, Davidson, Mark, Slama, Ramy A., Hayden, Michael R.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4955276/
https://ncbi.nlm.nih.gov/pubmed/27335115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002858
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