Etiology of osteogenesis imperfecta: an overview of biochemical and molecular genetic analyses

Connect Tissue Res. 1995;31(4):257-9. doi: 10.3109/03008209509010818.
No abstract available

Publication types

  • Review

MeSH terms

  • Adult
  • Child
  • Collagen / genetics
  • Collagen / metabolism
  • Collagen Type I / biosynthesis
  • Collagen Type I / deficiency*
  • Collagen Type I / genetics*
  • Collagen Type I / metabolism
  • Collagen Type I, alpha 1 Chain
  • DNA Mutational Analysis / standards
  • DNA Mutational Analysis / trends
  • Genetic Therapy / methods
  • Genetic Therapy / trends
  • Humans
  • Mutation / genetics*
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / metabolism
  • Osteogenesis Imperfecta / physiopathology
  • Phenotype
  • Protein Structure, Tertiary / genetics

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Collagen