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...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Nicholls, A C, Oliver, J, Renouf, D V, Keston, M, Pope, F M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1991
Assuntos:
Research Article
Acesso em linha: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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