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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
Classical osteogenesis imperfecta (OI) is a dominant genetic disorder of connective tissue caused by mutations in either of the two genes encoding type I collagen, COL1A1 and COL1A2. Recent investigations, however, have generated a new paradigm for OI incorporating many of the prototypical features...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3156555/ https://ncbi.nlm.nih.gov/pubmed/19862557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00441-009-0872-0 |
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