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Variable signaling activity by FOP ACVR1 mutations
Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. However, additional mutations within the ACVR1 BMP type I receptor have been identified in a small number of FOP cases, often in pati...
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| Publicado no: | Bone |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5866189/ https://ncbi.nlm.nih.gov/pubmed/29097342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2017.10.027 |
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