Inventors:
Frederick S. Kaplan - Philadelphia PA, US
Eileen M. Shore - Fort Washington PA, US
International Classification:
C12Q 1/68, C07H 21/04, C07K 16/28, C07H 21/02
Abstract:
This invention is directed to mutated Activin A type I receptor proteins (ACVR1) and isolated nucleic acids encoding same. The invention also relates to the use of mutated ACVR1 in the diagnosis and treatment of Fibrodysplasia Ossificans Progressiva (FOP).