Novel human pathological mutations. Gene symbol: COL1A2. Disease: Osteogenesis imperfecta III

Hum Genet. 2010 Apr;127(4):467.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • Collagen / genetics*
  • Collagen Type I
  • Humans
  • Mutation, Missense
  • Osteogenesis Imperfecta / genetics

Substances

  • Codon
  • Collagen Type I
  • Collagen

Supplementary concepts

  • Osteogenesis imperfecta, type 3