Neofunction of ACVR1 in fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by extraskeletal bone formation through endochondral ossification. FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP). Two mechanisms of mutated...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Hino, Kyosuke, Ikeya, Makoto, Horigome, Kazuhiko, Matsumoto, Yoshihisa, Ebise, Hayao, Nishio, Megumi, Sekiguchi, Kazuya, Shibata, Mitsuaki, Nagata, Sanae, Matsuda, Shuichi, Toguchida, Junya
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2015
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4687587/
https://ncbi.nlm.nih.gov/pubmed/26621707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1510540112
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