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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

Abstract:

AIM: Hypertrophic cardiomyopathy (HCM) exhibits genetic heterogeneity that is dominated by variation in eight sarcomeric genes. Genetic variation in a large number of non-sarcomeric genes has also been implicated in HCM but not formally assessed. Here we used very large case and control cohorts to determine the extent to which variation in non-sarcomeric genes contributes to HCM. METHODS AND RESULTS: We sequenced known and putative HCM genes in a new large prospective HCM cohort (n = 804) and...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/eurheartj/ehw603

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Grant:
Biomedical Research Unit in Cardiovascular Disease at Royal Brompton & Harefield National Health Service Foundation Trust and Imperial College London
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Grant:
107469/Z/15/Z, 090532/Z/09/Z
Medical Research Council More from this funder
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Publisher:
Oxford University Press Publisher's website
Journal:
European Heart Journal Journal website
Volume:
38
Issue:
46
Pages:
3461–3468
Publication date:
2017-01-11
DOI:
EISSN:
1522-9645
ISSN:
0195-668X
Pubs id:
pubs:671983
URN:
uri:fb21cce6-cbf7-493d-8560-18a4ae5e928a
UUID:
uuid:fb21cce6-cbf7-493d-8560-18a4ae5e928a
Local pid:
pubs:671983
Paper number:
46

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