Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta by 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 in Nature genetics (2007).

[PMID: 17277775] PubMed

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