Mutations in Type I Procollagen Genes That Cause Osteogenesis Imperfecta

  • Darwin J. Prockop
  • Clinton T. Baldwin
  • Constantinos D. Constantinou
Part of the Advances in Human Genetics book series (AHUG, volume 19)


Recent data from several laboratories have demonstrated that most forms of osteogenesis imperfecta (OI) are caused by mutations in one of the two structural genes for type I procollagen. Few, if any, are in the many other genes expressed in bone. This surprising conclusion has several implications for other genetic diseases that involve connective tissues as well as several more common diseases.


Collagen Fibril Osteogenesis Imperfecta Triple Helix Collagen Relate Lethal Form 
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Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Darwin J. Prockop
    • 1
  • Clinton T. Baldwin
    • 1
  • Constantinos D. Constantinou
    • 1
  1. 1.Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical CollegeThomas Jefferson UniversityPhiladelphiaUSA

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