PPIB Mutations Cause Severe Osteogenesis Imperfecta

Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position 98...

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Detaylı Bibliyografya
Asıl Yazarlar: 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., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2009
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756556/
https://ncbi.nlm.nih.gov/pubmed/19781681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.001
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