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ACVR1 P.q207e Causes Classic Fibrodysplasia Ossificans Progressiva and is Functionally Distinct from the Engineered Constitutively Active ACVR1 P.q207d Variant.

Julia Haupt,Alexandra Deichsel,Katja Stange,Cindy Ast,Renata Bocciardi,Roberto Ravazzolo,Maja Di Rocco,Paola Ferrari,Antonio Landi,Frederick S. Kaplan,Eileen M. Shore,Carsten Reissner,Petra Seemann

Human molecular genetics online/Human molecular genetics（2014）

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