The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

Author:

Cole W G,Patterson E,Bonadio J,Campbell P E,Fortune D W

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Genetic heterogeneity in osteogenesis imperfecta;Sillence, D.O.; Senn, A.S.; Danks, D.M.;J Med Genet,1979

2. A frameshift mutation results in a truncated non-functional carboxy-terminal propeptide of type I procollagen in osteogenesis imperfecta;Bateman, J.F.; Lamande, SR, Dahl; HHM, Chan; D, Mascara; T, Cole; W.G.;J Biol Chem,1989

3. The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal proal(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues;Cole, W.G.; Campbell, P.E.; Rogers, J.G.; Bateman, J.F.;J Med Genet,1990

4. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta;Bateman, J.F.; Mascara, T.; Chan, D.; Cole, W.G.;Biochem J,1984

5. Collagen defects in lethal perinatal osteogenesis imperfecta;Bateman, J.F.; Chan, D.; Mascara, T.; Rogers, J.G.; Cole, W.G.;BiochemJ,1986

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