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A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.

Biochemical and biophysical research communications - 30 Jul 1993

Harada H, Kimura A, Nishi H, Sasazuki T, Toshima H

Abstract excerpt

A novel missense mutation of the cardiac beta-myosin heavy chain gene was detected in five unrelated Japanese patients and their affected family members with hypertrophic cardiomyopathy (HCM) by using the polymerase chain reaction (PCR)-DNA conformation polymorphism (DCP) analysis. Sequencing analysis revealed an A to G transition at codon 778 leading to replacement of the Asp residue, which is adjacent to the...

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PMID: 8343162
DOI: 10.1006/bbrc.1993.1891

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