MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation
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Title
MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation
Authors
Keywords
Cardiac myosin binding protein-C, Gene repair, Gene therapy, Genetic testing, Hypertrophic cardiomyopathy, iPS Cells, <em class=EmphasisTypeItalic >MYBPC3</em>
Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 466, Issue 2, Pages 207-213
Publisher
Springer Nature
Online
2013-12-10
DOI
10.1007/s00424-013-1417-7
References
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Related references
Note: Only part of the references are listed.- Rescue of cardiomyopathy through U7snRNA-mediated exon skipping inMybpc3-targeted knock-in mice
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- Association of 25 bp Deletion in MYBPC3 Gene with Left Ventricle Dysfunction in Coronary Artery Disease Patients
- (2011) Anshika Srivastava et al. PLoS One
- Limited Distribution of a Cardiomyopathy-Associated Variant in India
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- (2009) Sakthivel Sadayappan et al. CIRCULATION
- Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy
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- Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice
- (2009) Nicolas Vignier et al. CIRCULATION RESEARCH
- Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency
- (2009) Steven Marston et al. CIRCULATION RESEARCH
- Reconstructing Indian population history
- (2009) David Reich et al. NATURE
- A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
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- Athlete’s heart or hypertrophic cardiomyopathy?
- (2008) Jörg Lauschke et al. Clinical Research in Cardiology
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