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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Detalhes bibliográficos
Main Authors: Starman, B J, Eyre, D, Charbonneau, H, Harrylock, M, Weis, M A, Weiss, L, Graham, J M, Byers, P H
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC329779/
https://ncbi.nlm.nih.gov/pubmed/2794057
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