Journal article

COLLAGEN DEFECTS IN LETHAL PERINATAL OSTEOGENESIS IMPERFECTA

JF BATEMAN, D CHAN, T MASCARA, JG ROGERS, WG COLE

Biochemical Journal | PORTLAND PRESS LTD | Published : 1986

Abstract

Quantitative and qualitative abnormalities of collagen were observed in tissues and fibroblast cultures from 17 consecutive cases of lethal perinatal osteogenesis imperfecta (OI). The content of type I collagen was reduced in OI dermis and bone and the content of type III collagen was also reduced in the dermis. Normal bone contained 99.3% type I and 0.7% type V collagen whereas OI bone contained a lower proportion of type I, a greater proportion of type V and a significant amount of type III collagen. The type III and V collagens appeared to be structurally normal. In contrast, abnormal type I collagen chains, which migrated slowly on electrophoresis, were observed in all babies with OI. Cu..

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