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Article

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.

Journal of medical genetics - 1 Oct 2013

Semaka Alicia, Kay Chris, Doty Crystal, Collins Jennifer A, Bijlsma Emilia K, Richards Fiona, Goldberg Y Paul, Hayden Michael R

Abstract excerpt

INTRODUCTION: New mutations for Huntington disease (HD) occur due to CAG repeat instability of intermediate alleles (IA). IAs have between 27 and 35 CAG repeats, a range just below the disease threshold of 36 repeats. While they usually do not confer the HD phenotype, IAs are prone to paternal germline CAG repeat instability. Consequently, they may expand into the HD range upon transmission to the next...

Topics

Alleles
Gene Frequency
Genomic Instability
Genotype
Germ-Line Mutation
Humans
Huntington Disease
Male
Spermatozoa
Trinucleotide Repeat Expansion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23896435
DOI: 10.1136/jmedgenet-2013-101796

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