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 het ... [truncated at 450 characters in length]|
|Author||Gregson, Celia L; Hollingworth, Peter; Williams, Martin; et al|
|Subject||Activin Receptors, Type I Adult Base Sequence DNA Mutational Analysis Female Heterozygote Humans Middle Aged Molecular Sequence Data Mutation Myositis Ossificans Ossification, Heterotopic Protein Structure, Tertiary Young Adult chemistry genetics genetics complications genetics complications genetics|