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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genot...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2638801/ https://ncbi.nlm.nih.gov/pubmed/18996919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn374 |
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