Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillatio...
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death
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Publisher
England: Portland Press Ltd The Biochemical Society
Journal title
Language
English
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Publisher
England: Portland Press Ltd The Biochemical Society
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Scope and Contents
Contents
Mutations in cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most CPVT RyR2 mutations characterized are gain-of-function (GOF), indicating enhanced RyR2 function as a major cause of CPVT. Loss-of-function (LOF) RyR2 mutations have also been identified and are linked to a distinct entity...
Alternative Titles
Full title
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8062958
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8062958
Other Identifiers
ISSN
0144-8463
E-ISSN
1573-4935
DOI
10.1042/BSR20210209
