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

BACKGROUND: RYR2, encoding cardiac ryanodine receptor, is the major responsible gene for catecholaminergic polymorphic ventricular tachycardia (CPVT). Meanwhile, KCNJ2, encoding inward‐rectifier potassium channel (I(K1)), can be the responsible gene for atypical CPVT. We recently encountered a famil...

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Detalles Bibliográficos
Autores principales: Dharmawan, Tommy, Nakajima, Tadashi, Ohno, Seiko, Iizuka, Takashi, Tamura, Shuntaro, Kaneko, Yoshiaki, Horie, Minoru, Kurabayashi, Masahiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850420/
https://www.ncbi.nlm.nih.gov/pubmed/30615235
http://dx.doi.org/10.1111/anec.12623