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Journal article

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

Abstract:

RATIONALE: Most sarcomere gene mutations that cause hypertrophic cardiomyopathy are missense alleles that encode dominant negative proteins. The potential exceptions are mutations in the MYBPC3 gene (encoding cardiac myosin-binding protein-C [MyBP-C]), which frequently encode truncated proteins. OBJECTIVE: We sought to determine whether there was evidence of haploinsufficiency in hypertrophic cardiomyopathy caused by MYBPC3 mutations by comparing left ventricular muscle from patients undergoi...

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Publication status:
Published

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Journal:
Circulation research
Volume:
105
Issue:
3
Pages:
219-222
Publication date:
2009-07-01
DOI:
EISSN:
1524-4571
ISSN:
0009-7330
Source identifiers:
104238
Language:
English
Keywords:
Pubs id:
pubs:104238
UUID:
uuid:868622a6-ffb7-4b2a-8156-cc2f6d5dacc2
Local pid:
pubs:104238
Deposit date:
2012-12-19

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