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.

Benzer Materyaller

• 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.
  Yazar:: Bateman, J F, ve diğerleri
  Baskı/Yayın Bilgisi: (1991)
• 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.
  Yazar:: Cole, W G, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)
• Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions.
  Yazar:: Baker, A T, ve diğerleri
  Baskı/Yayın Bilgisi: (1989)
• 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.
  Yazar:: Cole, W G, ve diğerleri
  Baskı/Yayın Bilgisi: (1992)
• Collagen defects in lethal perinatal osteogenesis imperfecta.
  Yazar:: Bateman, J F, ve diğerleri
  Baskı/Yayın Bilgisi: (1986)