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Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

Abstract:

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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Publisher copy:
10.1371/journal.pone.0005005

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Institution:
University of Oxford
Role:
Author
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Institution:
University of Oxford
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
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Institution:
University of Oxford
Role:
Author
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University of Oxford FOP Research Fund More from this funder
Structural Genomics Consortium More from this funder
Canadian Institutes for Health Research More from this funder
Canadian Foundation for Innovation More from this funder
Genome Canada, Ontario Genomics Institute More from this funder
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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:
1932-6203
ISSN:
1932-6203
Source identifiers:
34666
Language:
English
Keywords:
UUID:
uuid:11fb551f-4725-4706-abe4-303889ca32b5
Local pid:
pubs:34666
Deposit date:
2012-12-19

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