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Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding
Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and prolyl...
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| Main Authors: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3156560/ https://ncbi.nlm.nih.gov/pubmed/20089953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0907705 |
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