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Journal article

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

Abstract:

It is well established that MYBPC3 mutations are the most common cause of hypertrophic cardiomyopathy, accounting for about half of identified mutations. However, when compared with mutations in other myofibrillar proteins that cause hypertrophic cardiomyopathy, MYBPC3 mutations seem to be the odd one out. The most striking characteristic of HCM mutations in MYBPC3 is that many are within introns and are predicted to cause aberrant splicing leading to a frameshift and a premature chain termin...

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Publication status:
Published

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Publisher copy:
10.1007/s10974-011-9268-3

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
Journal:
Journal of muscle research and cell motility More from this journal
Volume:
33
Issue:
1
Pages:
75-80
Publication date:
2012-05-01
DOI:
EISSN:
1573-2657
ISSN:
0142-4319
Language:
English
Keywords:
Pubs id:
pubs:272925
UUID:
uuid:69633860-6b4d-4750-8ece-cf2a73e3bfbf
Local pid:
pubs:272925
Source identifiers:
272925
Deposit date:
2013-11-16

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