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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Biochemistry and Molecular Biology
2010
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| Assuntos: | |
| Acesso em linha: | 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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