Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

Published:2014-10-29 Issue:1 Volume:5 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Valdés-Mas Rafael,Gutiérrez-Fernández Ana,Gómez Juan,Coto Eliecer,Astudillo Aurora,Puente Diana A.,Reguero Julián R.,Álvarez Victoria,Morís César,León Diego,Martín María,Puente Xose S,López-Otín Carlos

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms6326.pdf

Reference33 articles.

1. Maron, B. J. et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults. Circulation 92, 785–789 (1995).

2. Gersh, B. J. et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy. Circulation 124, 2761–2796 (2011).

3. Seidman, C. E. & Seidman, J. G. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ. Res. 108, 743–750 (2011).

4. Maron, M. S. A paradigm shift in our understanding of the development of the hypertrophic cardiomyopathy phenotype?: not so fast!. Circulation 127, 10–12 (2013).

5. Puente, X. S. et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am. J. Hum. Genet. 88, 650–656 (2011).

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