Article
An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.
Journal of the American Heart Association - 3 Apr 2017
Cheng Jianding, Kyle John W, Lang Di, Wiedmeyer Brandi, Guo Jian, Yin Kun, Huang Lei, Vaidyanathan Ravi, Su Terry, Makielski Jonathan C
Abstract excerpt
BACKGROUND: We have identified the cardiomyopathy-susceptibility gene vinculin (VCL) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. We addressed whether VCL common variant D841H is associated with SUNDS. METHODS AND RESULTS: In 8 of 120 SUNDS cases, we detected an East Asian common VCL variant p.Asp841His (D841H). Comparing the H841 allele frequency of the general...
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