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

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

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

Affiliation

Semaka A; Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.

J Med Genet ; 50(10): 696-703, 2013 Oct.

Article in En | MEDLINE | ID: mdl-23896435

Subject(s)

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

Key words

CAG repeat instability; Genetic counselling; Huntington disease; Intermediate alleles; New mutations

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Huntington Disease / Trinucleotide Repeat Expansion / Genomic Instability / Alleles Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Limits: Humans / Male Language: En Journal: J Med Genet Year: 2013 Document type: Article Affiliation country: Canada Country of publication: United kingdom

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