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Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007 Mar;39(3):359-65. Epub 2007 Feb 4. Erratum in: Nat Genet. 2008 Jul;40(7):927.
Kaul SC, Sugihara T, Yoshida A, Nomura H, Wadhwa R. Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan. Oncogene. 2000 Jul 27;19(32):3576-83.
Marini JC, Cabral WA, Barnes AM, Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle. 2007 Jul 15;6(14):1675-81. Epub 2007 May 18. Review.
Vranka JA, Sakai LY, Bächinger HP. Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. J Biol Chem. 2004 May 28;279(22):23615-21. Epub 2004 Mar 24.
Wassenhove-McCarthy DJ, McCarthy KJ. Molecular characterization of a novel basement membrane-associated proteoglycan, leprecan. J Biol Chem. 1999 Aug 27;274(35):25004-17.
: November 2007
: September 15, 2014
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