Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy-Reference-Cited by-同舟云学术

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Published:2013-03-06 Issue:10 Volume:21 Page:1105-1111
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Roncarati Roberta,Viviani Anselmi Chiara,Krawitz Peter,Lattanzi Giovanna,von Kodolitsch Yskert,Perrot Andreas,di Pasquale Elisa,Papa Laura,Portararo Paola,Columbaro Marta,Forni Alberto,Faggian Giuseppe,Condorelli Gianluigi,Robinson Peter N

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201316.pdf

Reference51 articles.

1. Herman DS, Lam L, Taylor MR et al: Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012; 366: 619–628.

2. Hershberger RE, Siegfried JD : Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57: 1641–1649.

3. Parvari R, Levitas A : The mutations associated with dilated cardiomyopathy. Biochem Res Int 2012; 2012: 639250.

4. Karkkainen S, Peuhkurinen K : Genetics of dilated cardiomyopathy. Ann Med 2007; 39: 91–107.

5. Lakdawala NK, Dellefave L, Redwood CS et al: Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol 2010; 55: 320–329.

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