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Article

Functional Modeling of the ACVR1 (R206H) Mutation in FOP

15 Jun 2007

Abstract excerpt

Individuals with fibrodysplasia ossificans progressiva are born with malformations of the great toes and develop a heterotopic skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor. Substitution of adenine for guanine at nucleotide 617 replaces an evolutionarily conserved arginine with histidine at...

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PMID: 17572636
DOI: 10.1097/blo.0b013e318126c049

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Functional Modeling of the ACVR1 (R206H) Mutation in FOPPMID 17572636Read ↗

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