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

Neurology - 19 Jul 2016

Kay Chris, Collins Jennifer A, Miedzybrodzka Zosia, Madore Steven J, Gordon Erynn S, Gerry Norman, Davidson Mark, Slama Ramy A, Hayden Michael R

Abstract excerpt

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. The frequency of ≥36 CAG alleles was assessed out of a total of 14,630 alleles. The general population frequency of...

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Identifiers

PMID: 27335115
DOI: 10.1212/WNL.0000000000002858
PMCID: PMC4955276

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Source receipt: pubmed, retrieved 7 Sept 2026.

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