Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population-Reference-Cited by-同舟云学术

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

Published:2010-09-06 Issue:4 Volume:78 Page:381-387
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Sequeiros J,Ramos EM,Cerqueira J,Costa MC,Sousa A,Pinto-Basto J,Alonso I

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01388.x/fullpdf

Reference24 articles.

1. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes;The Huntington's Disease Collaborative Research Group;Cell,1993

2. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.;Am J Hum Genet,1998

3. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice;Costa;Eur J Hum Genet,2003

4. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease;Andrew;Nat Genet,1993

5. Trinucleotide repeat length instability and age of onset in Huntington's disease;Duyao;Nat Genet,1993

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