A new mutation for Huntington disease following maternal transmission of an intermediate allele-Reference-Cited by-同舟云学术

A new mutation for Huntington disease following maternal transmission of an intermediate allele

Published:2015-01 Issue:1 Volume:58 Page:28-30
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Semaka Alicia,Kay Chris,Belfroid René D.M.,Bijlsma Emilia K.,Losekoot Monique,van Langen Irene M.,van Maarle Merel C.,Oosterloo Mayke,Hayden Michael R.,van Belzen Martine J.

Funder

Canadian Institutes of Health Research (CIHR)

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference16 articles.

1. The gender effect in juvenile Huntington disease patients of Italian origin;Cannella;Am J Med Genet B Neuropsychiatr Genet,2004

2. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects;Goldberg;Nat Genet,1993

3. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS;Killoran;Neurology,2013

4. A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters;Laccone;Am J Hum Genet,2000

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