Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.

Benzer Materyaller

• Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix.
  Yazar:: Fertala, A, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)
• Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
  Yazar:: Constantinou, C D, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)
• A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
  Yazar:: Constantinou, C D, 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)
• 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)