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.

Παρόμοια τεκμήρια

• 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).
  ανά: Constantinou, C D, κ.ά.
  Έκδοση: (1990)
• Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
  ανά: Spotila, L D, κ.ά.
  Έκδοση: (1991)
• Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta.
  ανά: Peltonen, L, κ.ά.
  Έκδοση: (1980)
• A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
  ανά: Zhuang, J P, κ.ά.
  Έκδοση: (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.
  ανά: Steinmann, B, κ.ά.
  Έκδοση: (1991)