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ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: Second report
Authors:Y. Nakahara  T. Katagiri  N. Ogata  N. Haga
Affiliation:1. Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan;2. Division of Pathophysiology, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan;3. Project of Clinical and Basic Research for FOP at Saitama Medical University, Saitama, Japan
Abstract:
Keywords:fibrodysplasia ossificans progressiva (FOP)  FOP variant  slower and mild clinical course  rare mutation ACVR1 (587T>C)  activin A type 1 receptor gene (ACVR1)  bone morphogenetic protein (BMP)
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