Article
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Biochemical and biophysical research communications - 18 Oct 2002
Daehmlow Steffen, Erdmann Jeanette, Knueppel Tanja, Gille Christoph, Froemmel Cornelius, Hummel Manfred, Hetzer Roland, Regitz-Zagrosek Vera
Abstract excerpt
Mutations in sarcomeric protein genes have been reported to cause dilated cardiomyopathy (DCM). In order to detect novel mutations we screened the sarcomeric protein genes beta-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), and alpha-tropomyosin (TPM1) in 46 young patients with DCM. Mutation screening was done using single-strand conformation polymorphism (SSCP) analysis and DNA...
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