A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta

Hum Mol Genet. 1993 Dec;2(12):2175-7. doi: 10.1093/hmg/2.12.2175.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Collagen / genetics*
  • DNA / genetics
  • DNA Primers
  • Female
  • Genes, Lethal*
  • Glutamates*
  • Glutamic Acid
  • Glycine*
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Osteogenesis Imperfecta / genetics*
  • Polymerase Chain Reaction
  • Restriction Mapping

Substances

  • DNA Primers
  • Glutamates
  • Glutamic Acid
  • Collagen
  • DNA
  • Glycine