A Promoter Deletion Confirms That <i>MYBPC3</i> Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans-Reference-Cited by-同舟云学术

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A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans

Published:2024-02 Issue:1 Volume:17 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Hayesmoore Jesse B.G.¹^ORCID,Bowman Michael¹,Shannon Nora²^ORCID,Blair Edward³,Watkins Hugh⁴^ORCID,Thomson Kate L.¹^ORCID

Affiliation:

1. Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.)

2. Clinical Genetics Service, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, United Kingdom (N.S.).

3. Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, United Kingdom (E.B.).

4. Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom (H.W.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference5 articles.

1. Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy

2. Sarcomere Mutation-Specific Expression Patterns in Human Hypertrophic Cardiomyopathy

3. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

4. Myocardium-specific promoter.;Fiszman M;United States Patent Application Publication,2004

5. Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

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