Article
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.
The Journal of biological chemistry - 5 Apr 2002
Lang Rosalyn, Gomes Aldrin V, Zhao Jiaju, Housmans Philippe R, Miller Todd, Potter James D
Abstract excerpt
Familial hypertrophic cardiomyopathy has been associated with several mutations in the gene encoding human cardiac troponin I (HCTnI). A missense mutation in the inhibitory region of TnI replaces an arginine residue at position 145 with a glycine and cosegregates with the disease. Results from se...
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