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.

Eitemau Tebyg

• The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.
  gan: Cole, W G, et al.
  Cyhoeddwyd: (1990)
• Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
  gan: Cole, W G, et al.
  Cyhoeddwyd: (1996)
• Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
  gan: Cole, W G, et al.
  Cyhoeddwyd: (1996)
• Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
  gan: Bateman, J F, et al.
  Cyhoeddwyd: (1991)
• Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
  gan: Nicholls, A C, et al.
  Cyhoeddwyd: (1991)