Collagen pp 447-474 | Cite as

Genetic Collagen Diseases: Influence of Collagen Mutations on Structure and Mechanical Behavior

  • R.D. Blank
  • A.L. Boskey


Mutations in type I collagen as well as those in the enzymes involved in the processing of type I collagen and in proteins that associate with type I collagen have significant effects on the structure and mechanical properties of the collagen-containing tissues. Osteogenesis imperfecta, also known as “brittle bone disease” provides an illustration of how site-specific mutations and alterations can affect tissue integrity. Examples of other type I collagen diseases are also discussed.


Osteogenesis Imperfecta COL1A2 Gene Collagen Mutation Osteogenesis Imperfecta Type Dentinogenesis Imperfecta 


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  • R.D. Blank
  • A.L. Boskey

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