Whole Exome Molecular Autopsy With Copy Number Variant Analysis of Multiple Autopsy Negative Sudden Unexplained Deaths Among Amish Siblings Yields the Discovery of a Novel Homozygous Multi-exon Duplication in the Ryr2-Encoded Ryanodine Receptor

David J. Tester, Hannah M. Bombei,Kristi K. Fitzgerald,John Giudicessi,Beth A. Pitel, Erik C. Thorland, Barbara Russell,Samantha K. Hamrick,C. S. John Kim, Carla M. Haglund-Turnquist,Christopher Johnsrude,Dianne L. Atkins,Luis A. Ochoa,Ian H. Law,Joel Temple,Michael J. Ackerman

CIRCULATION（2019）

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摘要

Background: The whole exome molecular autopsy (WEMA) may elucidate a pathogenic substrate for sudden unexplained death in the young (SUDY). We combined the WEMA with copy number variant (CNV) analy...

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