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

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  1. Article

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

    Nat. Genet. 39, 359–365 (2007); published online 4 February 2007; corrected after print 26 June 2008 In the version of this article initially published, the nucleotide positions of the mutations in the LEPRE1 ...

    Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis… in Nature Genetics (2008)

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  2. Article

    Open Access

    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

    Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations...

    Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat… in Nature Communications (2016)

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