Molecular Consequences of the ACVR1(R206H) Mutation of Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP), a rare genetic and catastrophic disorder characterized by progressive heterotopic ossification, is caused by a point mutation, c.617G>A; p.R206H, in the activin A receptor type 1 (ACVR1) gene, one of the bone morphogenetic protein type I receptors (BMP...

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Autors principals: Song, Gin-Ah, Kim, Hyun-Jung, Woo, Kyung-Mi, Baek, Jeong-Hwa, Kim, Gwan-Shik, Choi, Jin-Young, Ryoo, Hyun-Mo
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2010
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2903413/
https://ncbi.nlm.nih.gov/pubmed/20463014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.094557
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