Jacqueline Neubauer and colleagues present a whole exome sequencing analysis in Sudden death of healthy young adults (SUD) in order to identify potentially diease-causing mutations. They identified variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A) and also in other two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGFB2).
Neubauer, Jacqueline et al. International Journal of Legal Medicine.
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EDGARDO R. PARRILLA, MD
Duke University, Durham, USA