The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

The features of a baby with lethal perinatal osteogenesis imperfecta (OI II), owing to a frameshift mutation that resulted in the production of a truncated and functionless carboxy terminal propeptide of the pro alpha 1(I) chain of type I procollagen, were studied. The baby (OI26) was heterozygous f...

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Detalles Bibliográficos
Main Authors: Cole, W G, Campbell, P E, Rogers, J G, Bateman, J F
Formato: Artigo
Idioma:Inglês
Publicado: 1990
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017215/
https://ncbi.nlm.nih.gov/pubmed/2121988
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