A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Published:2008-06 Issue:6 Volume:29 Page:879-885
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Fokstuen Siv,Lyle Robert,Munoz Analia,Gehrig Corinne,Lerch René,Perrot Andreas,Osterziel Karl Josef,Geier Christian,Beghetti Maurice,Mach François,Sztajzel Juan,Sigwart Ulrich,Antonarakis Stylianos E.,Blouin Jean-Louis

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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2. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands;Alders;Eur Heart J,2003

3. Glycogen storage diseases presenting as hypertrophic cardiomyopathy;Arad;N Engl J Med,2005

4. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis;Blair;Hum Mol Genet,2001

5. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin;Bos;Mol Genet Metab,2006

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