Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency-Reference-Cited by-同舟云学术

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

Published:2004-04-28 Issue:8 Volume:12 Page:673-677
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Andersen Paal S,Havndrup Ole,Bundgaard Henning,Larsen Lars A,Vuust Jens,Pedersen Anders K,Kjeldsen Keld,Christiansen Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201190.pdf

Reference25 articles.

1. Maron BJ, Bonow RO, Cannon RO et al: Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2). N Engl J Med 1987; 316: 844–852.

2. Wigle ED, Rakowski H, Kimball BP et al: Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation 1995; 92: 1680–1692.

3. Spirito P, Seidman CE, McKenna WJ et al: The management of hypertrophic cardiomyopathy. N Engl J Med 1997; 336: 775–785.

4. Richard P, Charron P, Carrier L et al: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.

5. Merante F, Myint T, Tein I et al: An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996; 8: 216–222.

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