Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
Open Access
- 6 March 2013
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 21 (10), 1105-1111
- https://doi.org/10.1038/ejhg.2013.16
Abstract
No abstract availableKeywords
This publication has 51 references indexed in Scilit:
- Disease gene identification strategies for exome sequencingEuropean Journal of Human Genetics, 2012
- Update 2011: Clinical and Genetic Issues in Familial Dilated CardiomyopathyJournal of the American College of Cardiology, 2011
- Conformation-regulated mechanosensory control via titin domains in cardiac musclePflügers Archiv - European Journal of Physiology, 2011
- Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscleCell Death & Differentiation, 2011
- Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular CardiomyopathyJournal of the American College of Cardiology, 2010
- Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric Dilated CardiomyopathyJournal of the American College of Cardiology, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based diseaseJournal of Molecular and Cellular Cardiology, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary DiseaseAmerican Journal of Human Genetics, 2008