Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

Hum Mutat. 1994;3(3):324-6. doi: 10.1002/humu.1380030327.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Arginine*
  • Base Sequence
  • Collagen / genetics*
  • Exons
  • Female
  • Glycine*
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Osteogenesis Imperfecta / classification
  • Osteogenesis Imperfecta / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Reference Values
  • Restriction Mapping

Substances

  • Collagen
  • Arginine
  • Glycine