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Molecular characterization of the calcium release channel deficiency syndrome

We identified a potentially novel homozygous duplication involving the promoter region and exons 1–4 of the gene encoding type 2 cardiac ryanodine receptor (RYR2) that is responsible for highly penetrant, exertion-related sudden deaths/cardiac arrests in the Amish community without an overt phenotyp...

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Detalles Bibliográficos
Autores principales:	Tester, David J., Kim, CS John, Hamrick, Samantha K., Ye, Dan, O’Hare, Bailey J., Bombei, Hannah M., Fitzgerald, Kristi K., Haglund-Turnquist, Carla M., Atkins, Dianne L., Nunez, Luis A. Ochoa, Law, Ian, Temple, Joel, Ackerman, Michael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455073/ https://www.ncbi.nlm.nih.gov/pubmed/32663189 http://dx.doi.org/10.1172/jci.insight.135952

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