Title : Functional modeling of the ACVR1 (R206H) mutation in FOP.

Pub. Date : 2007 Sep

PMID : 17572636






1 Functional Relationships(s)
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1 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. Glycine activin A receptor type 1 Homo sapiens