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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 exceptionall...

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Publication status:
Published

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Publisher copy:
10.1016/j.bone.2010.10.164

Authors


Gregson, CL More by this author
Hollingworth, P More by this author
Williams, M More by this author
Petrie, KA More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Structural Genomics Consortium
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Journal:
Bone
Volume:
48
Issue:
3
Pages:
654-658
Publication date:
2011-03-05
DOI:
EISSN:
1873-2763
ISSN:
8756-3282
URN:
uuid:e944b84d-b864-4791-8e95-f4fdd03c1947
Source identifiers:
93034
Local pid:
pubs:93034

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