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Genetic Disorders of Collagen Metabolism

  • David W. Hollister
  • Peter H. Byers
  • Karen A. Holbrook

Abstract

The first of the true genetic disorders of collagen metabolism, lysyl hydroxylase deficiency, was described in 1972 (Pinnell et al., 1972), and since that time there has been continued expansion of the biochemical understanding of inherited connective tissue disorders that involve collagen. In that period abnormalities in collagen structure, biosynthesis, post-translational modification, and degradation have been identified in the Ehlers-Danlos syndrome, the Marfan syndrome, osteogenesis imperfecta, cutis laxa, a small number of chondrodystrophies, and forms of epidermolysis bullosa.

Keywords

Osteogenesis Imperfecta Marfan Syndrome Lysyl Oxidase Joint Hypermobility Collagen Metabolism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1982

Authors and Affiliations

  • David W. Hollister
    • 1
  • Peter H. Byers
    • 2
  • Karen A. Holbrook
    • 3
  1. 1.Division of Medical Genetics, Departments of Pediatrics and MedicineHarbor-UCLA Medical Center, UCLA School of MedicineTorranceUSA
  2. 2.Departments of Pathology and MedicineUniversity of WashingtonSeattleUSA
  3. 3.Departments of Biological Structure and MedicineUniversity of WashingtonSeattleUSA

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