Truncations of Titin Causing Dilated Cardiomyopathy - Herman, Daniel S; Lam, Lien; Taylor, Matthew R.G; Wang, Libin; Teekakirikul, Polakit; Christodoulou, Danos; Conner, Lauren; DePalma, Steven R; McDonough, Barbara; Sparks, Elizabeth; Teodorescu, Debbie Lin; Cirino, Allison L; et al. (The New England journal of medicine, 2012)
Keywords: Adult; Amino acids; Biological and medical sciences; Biomedical research; Cardiology. Vascular system; Cardiomyopathy; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Dilated - pathology; Connectin; Deoxyribonucleic acid; Dilated cardiomyopathy; DNA; Female; Frameshift mutation; General aspects; Genes; Genetic screening; Genomes; Genotyping Techniques; Health services; Heart; Hospitals; Humans; Insertion; Male; Medical sciences; Middle Aged; Muscle Proteins - genetics; Muscular dystrophy; Mutation; Myocarditis. Cardiomyopathies; Myocardium - pathology; Protein Kinases - genetics; Proteins; Sequence Analysis, DNA - methods; Sequence Deletion; Splicing; Womens health; United Kingdom--UK; Medicine; Connectin; Congestive hypertrophic cardiomyopathy; Dilated cardiomyopathy; Heart disease; Cardiovascular disease; Myocardial disease; Truncation