Journal article
A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy
- Abstract:
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Background - The common intronic deletion, MYBPC3Δ25, detected in 4-8% of South Asian populations, is reported to be associated with cardiomyopathy, with ~7-fold increased risk of disease in variant carriers. Here we examine the contribution of MYBPC3Δ25 to hypertrophic cardiomyopathy (HCM) in a large patient cohort.
Methods - Sequence data from two HCM cohorts (n=5,393) was analysed to determine MYBPC3Δ25 frequency and co-occurrence of pathogen... Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 400.7KB)
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(Version of record, pdf, 931.0KB)
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- Publisher copy:
- 10.1161/CIRCGEN.119.002783
Authors
Bibliographic Details
- Publisher:
- American Heart Association Publisher's website
- Journal:
- Circulation: Genomic and Precision Medicine Journal website
- Volume:
- 13
- Issue:
- 3
- Article number:
- e002783
- Publication date:
- 2020-03-12
- Acceptance date:
- 2020-03-12
- DOI:
- EISSN:
-
2574-8300
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1093397
- Local pid:
- pubs:1093397
- Deposit date:
- 2020-03-13
Terms of use
- Copyright holder:
- Harper et al
- Copyright date:
- 2020
- Rights statement:
- © 2020 The Authors. Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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