High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.

Abstract

Intermediate alleles (27-35 CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to CAG repeat instability. Consequently, offspring are at-risk of inheriting an expanded allele in the HD range (≥36 CAG). IAs that expand into a new mutation have been hypothesized to be more susceptible to instability compared to IAs… (More)
DOI: 10.1002/ajmg.b.32193

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