Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
Skin fibroblasts grown from three individuals with osteogenesis imperfecta (OI) each synthesized a population of normal type I collagen molecules and additional molecules that had one or two alpha 1(I) chains that contained a cysteine residue within the triple-helical domain, a region from which cys...
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| Udgivet i: | J Clin Invest |
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| Principais autores: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1989
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329779/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2794057/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114286 |
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