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A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, Jimi E, Maruki Y, Matsuoka M, Namba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Furuya H, Kamizono J, Kitoh H, Nakashima Y, Susami T, Haga N, Komori T, Katagiri T. Ohte S, et al. Among authors: shin m. Biochem Biophys Res Commun. 2011 Apr 1;407(1):213-8. doi: 10.1016/j.bbrc.2011.03.001. Epub 2011 Mar 4. Biochem Biophys Res Commun. 2011. PMID: 21377447
5,236 results