Article
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
Circulation. Cardiovascular genetics - 1 Jun 2016
Anderson Jason H, Tester David J, Will Melissa L, Ackerman Michael J
Abstract excerpt
BACKGROUND: Targeted postmortem genetic testing of the 4 major channelopathy-susceptibility genes (KCNQ1, KCNH2, SCN5A, and RYR2) have yielded putative pathogenic mutations in ≤30% of autopsy-negative sudden unexplained death in the young (SUDY) cases with highest yields derived from the subset of exertion-related SUDY. Here, we evaluate the role of whole-exome sequencing in exertion-related SUDY cases. METHODS...
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