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Skin and Connective Tissue Disorders

  • James C. Hyland
Chapter
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Abstract

Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder resulting from the reduced synthesis or the accumulation of abnormal type I collagen, which is a major structural component of many connective tissues including bone. Type I collagen is a trimeric molecule composed of two α1(I) chains and one α2(I) chain, encoded by the COL1A1 and COL1A2 genes, respectively. Fibrillar collagens have a long triple helical domain composed of Gly-X-Y repeats. Glycine residues at every third position are required for the formation of the triple helical domain.1 OI is predominantly inherited in an autosomal dominant fashion and is caused by a wide variety of mutational events in either the COL1A1 or COL1A2 gene.

Keywords

Osteogenesis Imperfecta Marfan Syndrome Epidermolysis Bullosa COL1A2 Gene Epidermolysis Bullosa Simplex 
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

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • James C. Hyland
    • 1
    • 2
  1. 1.Connective Tissue Gene TestsAllentown
  2. 2.Health Network Laboratories and Lehigh Valley HospitalAllentownUSA

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