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A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Abstract:

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G>A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. Here we describe a novel c.587 T>C mutation in the glycine/serine-rich domain of ACVR1, associated with delayed onset of heterotopic ossification and an exceptionally mi...

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Publisher copy:
10.1016/j.bone.2010.10.164

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
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Journal:
Bone
Volume:
48
Issue:
3
Pages:
654-658
Publication date:
2011-03-01
DOI:
ISSN:
8756-3282
Source identifiers:
120526
Language:
English
Keywords:
Pubs id:
pubs:120526
UUID:
uuid:863ac2ea-6c2b-43c1-951f-96ca610bb337
Local pid:
pubs:120526
Deposit date:
2012-12-19

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