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1990, ISBN 0425119653, 338
Book
Journal
Mutation research, ISSN 0027-5107, 1964
Journal
Journal Article
2013, 1st ed., ISBN 9780199661732, xi, 244
Book
Circulation Research, ISSN 0009-7330, 06/2017, Volume 121, Issue 5, pp. 525 - 536
RATIONALE:Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a leading cause... 
Cardiac arrhythmia | Ryanodine receptor calcium channel | Cardiac sudden death | Cathecholaminergic polymorphic ventricular tachycardia | Transgenic mice | Genetics | Gene therapy | POLYMORPHIC VENTRICULAR-TACHYCARDIA | CARDIAC & CARDIOVASCULAR SYSTEMS | cardiac arrhythmia | cardiac sudden death | gene therapy | IN MOUSE MODEL | RELEASE | cathecholaminergic polymorphic ventricular tachycardia | KNOCK | genetics | transgenic mice | CARDIAC CALSEQUESTRIN | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | Animals, Newborn | Arrhythmias, Cardiac - prevention & control | Humans | Mice, Inbred C57BL | RNA, Messenger - genetics | Cells, Cultured | Male | Mice, Transgenic | Ryanodine Receptor Calcium Release Channel - ultrastructure | Mutation - genetics | RNA, Messenger - ultrastructure | Arrhythmias, Cardiac - pathology | Phenotype | Animals | Ryanodine Receptor Calcium Release Channel - deficiency | Ryanodine Receptor Calcium Release Channel - genetics | Alleles | HEK293 Cells | Heterozygote | Mice | Gene Silencing - physiology | Arrhythmias, Cardiac - genetics | Neonates | Phenotypes | Transcription | Cardiac muscle | RNA-mediated interference | Ryanodine receptors | Tubules | Isoproterenol | Proteins | Gene silencing | Mitochondria | Tachycardia | Sarcoplasmic reticulum | Rodents | Mutation | Ventricle | Heart diseases | Index Medicus
Journal Article
2014, Volume 5, 2
Reference
Reference
2016, ISBN 0128044691, ix, 180 pages
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of... 
Genetic Diseases, Inborn | Mutation (Biology) | Genetic disorders | Nonsense mutation | Biology, life sciences
Book
Mutation research
Journal
Journal of Thoracic Oncology, ISSN 1556-0864, 06/2011, Volume 6, Issue 6, pp. 1006 - 1015
Journal Article
Circulation, ISSN 0009-7322, 2012, Volume 125, Issue 16, pp. 1988 - +
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 11/2006, Volume 12, Issue 21, pp. 6494 - 6501
Journal Article
1976, ISBN 9780470036709, xxviii, 504
Book