Article
Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy.
The American journal of physiology - 1 Aug 1999
Nakaura H, Morimoto S, Yanaga F, Nakata M, Nishi H, Imaizumi T, Ohtsuki I
Abstract excerpt
A splice donor site mutation in intron 15 of the cardiac troponin T (TnT) gene has been shown to cause familial hypertrophic cardiomyopathy (HCM). In this study, two truncated human cardiac TnTs expected to be produced by this mutation were expressed in Escherichia coli and partially (50-55%) exchanged into rabbit permeabilized cardiac muscle fibers. The fibers into which a short truncated TnT, which lacked the...
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