Article
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
Biochemical and biophysical research communications - 19 Dec 2008
Fukuda Toru, Kanomata Kazuhiro, Nojima Junya, Kokabu Shoichiro, Akita Masumi, Ikebuchi Kenji, Jimi Eijiro, Komori Tetsuo, Maruki Yuichi, Matsuoka Masaru, Miyazono Kohei, Nakayama Konosuke, Nanba Akira, Tomoda Hiroshi, Okazaki Yasushi, Ohtake Akira, Oda Hiromi, Owan Ichiro, Yoda Tetsuya, Haga Nobuhiko, Furuya Hirokazu, Katagiri Takenobu
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disorder characterized by progressive heterotopic bone formation in muscle tissues. A common mutation among FOP patients has been identified in ALK2, ALK2(R206H), which encodes a constitutively active bone morphogenetic protein (BMP) receptor. Recently, a unique mutation of ALK2, ALK2(G356D), was identified to be a novel mutation...
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