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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Publicado no:Nat Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha: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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