Journal article
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
- Abstract:
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Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there is severe advancement of disability with age. FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. Very recently two other mutations h...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 174.8KB)
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- Publisher copy:
- 10.1371/journal.pone.0005005
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Authors
Funding
University of Oxford FOP Research Fund
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Structural Genomics Consortium
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Canadian Institutes for Health Research
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Canadian Foundation for Innovation
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Genome Canada, Ontario Genomics Institute
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Bibliographic Details
- Publisher:
- Public Library of Science Publisher's website
- Journal:
- PloS one Journal website
- Volume:
- 4
- Issue:
- 3
- Article number:
- e5005
- Publication date:
- 2009-01-01
- DOI:
- EISSN:
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1932-6203
- ISSN:
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1932-6203
- Source identifiers:
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34666
Item Description
- Language:
- English
- Keywords:
- UUID:
-
uuid:11fb551f-4725-4706-abe4-303889ca32b5
- Local pid:
- pubs:34666
- Deposit date:
- 2012-12-19
Terms of use
- Copyright holder:
- Petrie et al
- Copyright date:
- 2009
- Notes:
- Copyright 2009 Petrie et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Licence:
- CC Attribution (CC BY)
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