Osteogenesis imperfecta: biochemical and clinical evaluation of 13 cases.
Skin fibroblasts were cultured from 13 patients with Osteogenesis imperfecta and collagen biosynthesis was investigated in vitro. In those patients characterised by only mild manifestations of the disease, the ratio of collagen types I and III was disturbed. By contrast, fibroblasts obtained from patients with Osteogenesis imperfecta of a more severe type synthesised collagen types I/III in a normal ratio.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D003094:Collagen / Q000096:biosynthesis; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000378:metabolism* / Q000503:physiopathology
D003094:Collagen