Article
In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy.
Circulation research - 29 Oct 1999
Yang Q, Sanbe A, Osinska H, Hewett T E, Klevitsky R, Robbins J
Abstract excerpt
Myosin binding protein C (MyBP-C) is an integral part of the striated muscle sarcomere. As is the case for other sarcomeric genes in human populations, multiple mutations within the gene have been linked to familial hypertrophic cardiomyopathy. Although some MyBP-C lesions are the result of missense mutations, most show truncated polypeptides lacking either the myosin or myosin and titin binding sites....
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