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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; Banner, Nicholas R; Pennell, Dudley J; Graw, Sharon; Merlo, Marco; Di Lenarda, Andrea; Sinagra, Gianfranco; Bos, J. Martijn; Ackerman, Michael J; Mitchell, Richard N; Murry, Charles E; Lakdawala, Neal K; Ho, Carolyn Y; Barton, Paul J.R; Cook, Stuart A; Mestroni, Luisa; Seidman, Christine E; Seidman, J.G
The New England journal of medicine, 02/2012, Letnik: 366, Številka: 7Journal Article
Titin, an important protein in the sarcomere, is the largest human protein. This study identified mutations in the titin gene that result in a truncated protein as important causes of dilated cardiomyopathy. Gene mutation is an important cause of cardiomyopathy. Mutations in eight sarcomere-protein genes cause hypertrophic cardiomyopathy, detected in 40 to 70% of patients. 1 , 2 Variations in more than 40 genes, most of which encode components of the sarcomere, the cytoskeleton, or the nuclear lamina, have been shown or posited to cause dilated cardiomyopathy. 3 , 4 Clinical evaluation identifies 30 to 50% of patients with dilated cardiomyopathy as having a relative who is affected or likely to be affected, 5 – 7 implicating a genetic cause. However, pathogenic mutations have been found in only 20 to 30% of patients. 8 TTN, the gene encoding titin, . . .
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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