Back to Search Start Over

PPIB mutations cause severe osteogenesis imperfecta

Authors :
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
Pals, Gerard
Source :
American Journal of Human Genetics. Oct 9, 2009, Vol. 85 Issue 4, p521, 7 p.
Publication Year :
2009

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.

Details

Language :
English
ISSN :
00029297
Volume :
85
Issue :
4
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.212661910