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Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
We have examined the type I collagen in a patient with type III/IV osteogenesis imperfecta. Two forms of alpha 1(I) chain were produced, one normal and the other containing a cysteine residue within the triple helical domain of the molecule. Cysteine is not normally present in this domain of type I...
Salvato in:
| Pubblicato in: | J Med Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
1991
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017111/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1770532/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.11.757 |
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