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.

doi:10.1016/j.bbrc.2011.03.001

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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.

Biochemical and biophysical research communications - 1 Apr 2011

Ohte Satoshi, Shin Masashi, Sasanuma Hiroki, Yoneyama Katsumi, Akita Masumi, Ikebuchi Kenji, Jimi Eijiro, Maruki Yuichi, Matsuoka Masaru, Namba Akira, Tomoda Hiroshi, Okazaki Yasushi, Ohtake Akira, Oda Hiromi, Owan Ichiro, Yoda Tetsuya, Furuya Hirokazu, Kamizono Jyunji, Kitoh Hiroshi, Nakashima Yasuharu, Susami Takafumi, Haga Nobuhiko, Komori Tetsuo, Katagiri Takenobu

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disorder characterized by progressive heterotopic ossification in muscle tissues. Constitutively activated mutants of a bone morphogenetic protein (BMP) receptor, ALK2, have been identified in patients with FOP. R...

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PMID: 21377447
DOI: 10.1016/j.bbrc.2011.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21377447-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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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.PMID 21377447Read ↗

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