Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta

Hum Mol Genet. 1993 Aug;2(8):1319-21. doi: 10.1093/hmg/2.8.1319.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • Codon / genetics
  • Collagen / genetics*
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Glycine
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Heteroduplexes / isolation & purification
  • Nucleic Acid Heteroduplexes / metabolism
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / metabolism
  • Osteogenesis Imperfecta / pathology
  • Point Mutation*
  • RNA, Messenger / isolation & purification
  • RNA, Messenger / metabolism
  • Serine
  • Skin / pathology
  • Valine

Substances

  • Codon
  • Nucleic Acid Heteroduplexes
  • RNA, Messenger
  • Serine
  • Collagen
  • Valine
  • Glycine