Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

Hum Mutat. 1997;9(4):378-82. doi: 10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-#.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child
  • Collagen / analysis
  • Collagen / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Fibroblasts / chemistry
  • Genes / genetics
  • Glycine / genetics*
  • Humans
  • Infant
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / pathology
  • Peptide Mapping
  • Phenotype
  • Point Mutation / genetics*
  • Serine / genetics*
  • Skin / cytology

Substances

  • Serine
  • Collagen
  • Glycine