Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family

Chin Med J (Engl). 2016 Jan 5;129(1):88-91. doi: 10.4103/0366-6999.172600.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Humans
  • Mutation
  • Osteogenesis Imperfecta / genetics*
  • Pedigree
  • Perinatal Death

Substances

  • COL1A1 protein, human
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain