Journal article
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies
- Abstract:
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Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for T...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Version of record, pdf, 988.4KB, Terms of use)
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- Publisher copy:
- 10.1007/s10974-017-9487-3
Authors
Funding
+ British Heart Foundation
More from this funder
Funding agency for:
Gehmlich, K
Grant:
201543/B/16/Z
+ National Institute for Health Research
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Funding agency for:
Thomson, K
Grant:
NIHR-HCS-D13-04-006
+ Wellcome Trust
More from this funder
Funding agency for:
Jiang, H
Gehmlich, K
Grant:
201543/B/16/Z
201543/B/16/Z
Bibliographic Details
- Publisher:
- Springer Verlag
- Journal:
- Journal of Muscle Research and Cell Motility More from this journal
- Volume:
- 38
- Issue:
- 3-4
- Pages:
- 306-316
- Publication date:
- 2017-11-08
- Acceptance date:
- 2017-10-28
- DOI:
- EISSN:
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1573-2657
- ISSN:
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0142-4319
Item Description
- Keywords:
- Pubs id:
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pubs:745095
- UUID:
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uuid:325245c1-e224-4496-98e8-f0ab30cdfcdb
- Local pid:
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pubs:745095
- Source identifiers:
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745095
- Deposit date:
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2017-11-13
Terms of use
- Copyright holder:
- © Ehsan, et al 2017
- Copyright date:
- 2017
- Notes:
- This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
- Licence:
- CC Attribution (CC BY)
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