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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

PLoS ONE. 2016;

Jiménez-JáimezJuan，Palomino DozaJulián，OrtegaÁngeles，Macías-RuizRosa，PerinFrancesca，Rodríguez-Vázquez del ReyM Mar，Ortiz-GengaMartín，MonserratLorenzo，Barriales-VillaRoberto，BlancaEnrique，ÁlvarezMiguel，Tercedor

Products/Services Used	Details	Operation
Peptide Synthesis	… Next, the interaction between the calmodulin variants and a peptide from RYR2 encompassing the calmodulin binding domain (CBD), RYR2-CBD (R3581- SKKAVWHKLLSKQRKRAVVACFRMAPLYN-L3611 [Genscript, USA]), was investigated …	Get A Quote

摘要

Calmodulin 1， 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. The underlying aetiology described is long QT syndrome (LQTS)， catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic ventricular fibrillation (IVF). Little phenotypical data about CALM2 mutations is available.