Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts.

Abstract excerpt

Studies of collagen biosynthesis and prolidase activity were performed on cultured skin fibroblasts obtained from a female patient and her father, who displayed variable phenotypes of mild osteogenesis imperfecta (OI). For comparison, the same studies were also performed on age-matched controls. Biosynthesis of collagen in fibroblasts of the less affected father was reduced to approximately 50% of control levels,...

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