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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

IMPORTANCE: The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death. OBJECTIVE: To investigate the underlying cause of multiple sudden deaths in young individuals and sudden cardiac arrests that occurred in 2 large Amish families. DESIGN, SETTING, AND PARTICIPAN...

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Библиографические подробности
Опубликовано в: :JAMA Cardiol
Главные авторы: Tester, David J., Bombei, Hannah M., Fitzgerald, Kristi K., Giudicessi, John R., Pitel, Beth A., Thorland, Erik C., Russell, Barbara G., Hamrick, Samantha K., Kim, C. S. John, Haglund-Turnquist, Carla M., Johnsrude, Christopher L., Atkins, Dianne L., Ochoa Nunez, Luis A., Law, Ian, Temple, Joel, Ackerman, Michael J.
Формат: Artigo
Язык:Inglês
Опубликовано: American Medical Association 2020
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990654/
https://ncbi.nlm.nih.gov/pubmed/31913406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamacardio.2019.5400
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