Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

Autor: Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.
Zdroj: In Stem Cell Reports 13 September 2022 17(9):2023-2036
Databáze: ScienceDirect