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Identical ARG206HIS mutations in the GS Domain of the Activin A Type I Receptor (ACVR1) gene cause inherited and sporadic Fibrodysplasia Ossificans Progressiva (FOP)
Technology Overview: Fibrodysplasia Ossificans Progressiva (FOP) is a catastrophic human genetic disorder of extra-skeletal (heterotopic) bone formation in which affected individuals essentially form a second skeleton within their skeletal muscles and soft connective tissue.The investigators report the elusive and long awaited causative genetic mutation...
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