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Published in 2021 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202013074
Abstract: The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/Cas9, and cardiomyocytes were differentiated. Mutant cardiomyocytes revealed…
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Keywords:
mitochondria compartment;
arg14del;
pln arg14del;
arg14del mutation ... See more keywords