Article
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
BMC medical genetics - 26 Oct 2015
Pan Stephen, Sommese Ruth F, Sallam Karim I, Nag Suman, Sutton Shirley, Miller Susan M, Spudich James A, Ruppel Kathleen M, Ashley Euan A
Abstract excerpt
BACKGROUND: As next generation sequencing for the genetic diagnosis of cardiovascular disorders becomes more widely used, establishing causality for putative disease causing variants becomes increasingly relevant. Diseases of the cardiac sarcomere provide a particular challenge in this regard because of the complexity of assaying the effect of genetic variants in human cardiac contractile proteins. RESULTS: In...
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