An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.

Ítems similars

• Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
  per: Stover, M L, et al.
  Publicat: (1993)
• 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.
  per: Fertala, A, et al.
  Publicat: (1993)
• Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
  per: Redford-Badwal, D A, et al.
  Publicat: (1996)
• 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.
  per: Nicholls, A C, et al.
  Publicat: (1991)
• 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.
  per: Steinmann, B, et al.
  Publicat: (1991)