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Autor:
MaryAnn Weis, Nadja Fratzl-Zelman, Paul Roschger, Joseph E. Perosky, Sergey Leikin, Wayne A. Cabral, David R. Eyre, Kenneth M. Kozloff, Heeseog Kang, Peter S. Backlund, Elena Makareeva, Antonella Forlino, Joan C. Marini, Adrienne Alimasa, Rachel Harris, Klaus Klaushofer, Aileen M. Barnes
Publikováno v:
Matrix Biol
Null mutations in CRTAP or P3H1, encoding cartilage-associated protein and prolyl 3-hydroxylase 1, cause the severe bone dysplasias, types VII and VIII osteogenesis imperfecta. Lack of either protein prevents formation of the ER prolyl 3-hydroxylatio