Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

@article{Kimura1997MutationsIT,
  title={Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy},
  author={A. Kimura and H. Harada and Jeong-Euy Park and H. Nishi and M. Satoh and Megumi Takahashi and S. Hiroi and T. Sasaoka and N. Ohbuchi and Takeyuki Nakamura and T. Koyanagi and T. Hwang and J. Choo and Kyu-Sung Chung and A. Hasegawa and R. Nagai and O. Okazaki and Hiroshi Nakamura and M. Matsuzaki and T. Sakamoto and H. Toshima and Y. Koga and T. Imaizumi and T. Sasazuki},
  journal={Nature Genetics},
  year={1997},
  volume={16},
  pages={379-382}
}
Hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in the young, is an autosomal dominant disease characterized by ventricular hypertrophy accompanied by myofibrillar disarrays1. Linkage studies and candidate-gene approaches have demonstrated that about half of the patients have mutations in one of six disease genes: cardiac (β-myosin heavy chain (cβMHQ2,3) cardiac troponin T (cThT)4,5, α-tropomyosin (αTM)5'6, cardiac myosin binding protein C (cMBP-C)7–9, ventricular… Expand
The molecular genetic basis for hypertrophic cardiomyopathy.
Molecular Genetic Basis of Hypertrophic Cardiomyopathy:
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
Inherited cardiomyopathies caused by troponin mutations
Molecular and Cellular Aspects of Troponin Cardiomyopathies
Role of troponin T in disease
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