1. PPIB mutations cause severe osteogenesis imperfecta
- Author
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van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Hogler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, and Pals, Gerard
- Subjects
Collagen -- Chemical properties ,Gene mutations -- Analysis ,Hydroxylation -- Analysis ,Osteogenesis imperfecta -- Genetic aspects ,Biological sciences - Abstract
The various mutations taking place in the PPIB genes that lead to the onset of osteogenesis imperfecta (OI) disorder are discussed. The results prove that a dysfunctional complex is more likely to lead to OI, in comparison with the lack of a single proline residue.
- Published
- 2009