Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.

Tommy DharmawanTadashi NakajimaSeiko OhnoTakashi IizukaShuntaro TamuraYoshiaki KanekoMinoru HorieMasahiko Kurabayashi

Published in: Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc (2019)

Focusing on the read numbers in the TPS enabled us to identify a novel CNV, RYR2-exon3 deletion, which was associated with phenotypic features of this family.

Keyphrases

single molecule