Article
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.
Journal of molecular and cellular cardiology - 1 Sept 1995
Nakajima-Taniguchi C, Matsui H, Nagata S, Kishimoto T, Yamauchi-Takihara K
Abstract excerpt
We have searched for mutations in alpha-tropomyosin gene in 50 Japanese patients with hypertrophic cardiomyopathy (HCM) by means of polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Two missense mutations of the alpha-tropomyosin gene were detected in Japanese patients with familial HCM. Sequencing analysis revealed a C to T transition at codon 63 leading to a replacement of...
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