MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
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Title
MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
Authors
Keywords
<em class=EmphasisTypeItalic >MYBPC3</em> mutations, Haploinsufficiency, Poison peptide, Exon skipping, Exon inclusion, Spliceosome-mediated RNA <em class=EmphasisTypeItalic >trans</em>-splicing
Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 466, Issue 2, Pages 215-223
Publisher
Springer Nature
Online
2013-12-11
DOI
10.1007/s00424-013-1409-7
References
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Note: Only part of the references are listed.- Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells
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- Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency
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