Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

Nuytinck, Lieve;Wettinck, Karen;Freund, Margarida;Van Maldergem, Lionel;De Paepe, Anne;et.al.
(1997) European Journal of Human Genetics — Vol. 5, n° 3, p. 161-167 (1997)

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Authors
  • Nuytinck, Lieve
    Author
  • Wettinck, Karen
    Author
  • Freund, MargaridaUCLouvain
    Author
  • Van Maldergem, Lionel
    Author
  • De Paepe, Anne
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Abstract
Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha1 and alpha2 collagen chains do not necessarily correspond.
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Nuytinck, L., Wettinck, K., Freund, M., Van Maldergem, L., Fabry, G., & De Paepe, A. (1997). Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain. European Journal of Human Genetics, 5(3), 161-167. https://hdl.handle.net/2078.5/113376 (Original work published 1997)