Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone disease have been reported. CRTAP forms a complex with cyclophilin B and prolyl 3-hydroxylase...

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Bibliografski detalji
Izdano u:Nat Genet
Glavni autori: Cabral, Wayne A, Chang, Weizhong, Barnes, Aileen M, Weis, MaryAnn, Scott, Melissa A, Leikin, Sergey, Makareeva, Elena, Kuznetsova, Natalia V, Rosenbaum, Kenneth N, Tifft, Cynthia J, Bulas, Dorothy I, Kozma, Chahira, Smith, Peter A, Eyre, David R, Marini, Joan C
Format: Artigo
Jezik:Inglês
Izdano: 2007
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7510175/
https://ncbi.nlm.nih.gov/pubmed/17277775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1968
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