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Article

Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jan 2010

Semaka A, Collins J A, Hayden M R

Abstract excerpt

There are inconsistent reports regarding the likelihood of repeat instability for alleles with 27-35 CAG repeats in the Huntington disease (HD) gene. We have examined the intergenerational stability of such intermediate alleles in 51 families from the University of British Columbia's DNA and Tissue Bank for Huntington Disease Research (UBC-HD Databank). A total of 181 transmissions were identified, with 30% (n =...

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PMID: 19455596
DOI: 10.1002/ajmg.b.30970

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UBC

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