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Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation
We report a unique glycine substitution in type I collagen and highlight the clinical and biochemical consequences. The proband is a 9 year old Turkish boy with severely deforming osteogenesis imperfecta (OI). Biochemical analysis of (pro) collagen type I from a skin fibroblast culture showed both n...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734595/ https://ncbi.nlm.nih.gov/pubmed/10807697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.5.371 |
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