A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV

Clin Chim Acta. 2009 Nov;409(1-2):145-6. doi: 10.1016/j.cca.2009.09.008. Epub 2009 Sep 12.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Osteogenesis Imperfecta / genetics*
  • Pedigree

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain