A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Hum Mutat. 1994;3(4):391-4. doi: 10.1002/humu.1380030411.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Child, Preschool
  • Collagen / chemistry
  • Collagen / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Single-Stranded / genetics
  • Female
  • Glycine / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Osteogenesis Imperfecta / genetics*
  • Point Mutation*
  • Polymorphism, Genetic
  • Procollagen / chemistry
  • Procollagen / genetics
  • Restriction Mapping
  • Serine / genetics*

Substances

  • DNA Primers
  • DNA, Single-Stranded
  • Procollagen
  • Serine
  • Collagen
  • Glycine