Journal article
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
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Authors
Bibliographic Details
- Journal:
- Bone
- Volume:
- 48
- Issue:
- 3
- Pages:
- 654-658
- Publication date:
- 2011-03-01
- DOI:
- ISSN:
-
8756-3282
- Source identifiers:
-
120526
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:120526
- UUID:
-
uuid:863ac2ea-6c2b-43c1-951f-96ca610bb337
- Local pid:
- pubs:120526
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2011
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