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References

These sources were used to develop the Genetics Home Reference gene summary on the POR gene.

Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CH. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet. 2004 Jun 26;363(9427):2128-35. PubMed citation
Entrez Gene
Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar;36(3):228-30. Epub 2004 Feb 1. PubMed citation
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. Epub 2004 Oct 13. PubMed citation
Hart SN, Zhong XB. P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. Expert Opin Drug Metab Toxicol. 2008 Apr;4(4):439-52. doi: 10.1517/17425255.4.4.439 . Review. PubMed citation
Huang N, Agrawal V, Giacomini KM, Miller WL. Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1733-8. doi: 10.1073/pnas.0711621105. Epub 2008 Jan 29. PubMed citation
Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005 May;76(5):729-49. Epub 2005 Mar 25. PubMed citation
Miller WL, Huang N, Agrawal V, Giacomini KM. Genetic variation in human P450 oxidoreductase. Mol Cell Endocrinol. 2009 Mar 5;300(1-2):180-4. doi: 10.1016/j.mce.2008.09.017. Epub 2008 Sep 26. Review. PubMed citation
Sim SC, Miller WL, Zhong XB, Arlt W, Ogata T, Ding X, Wolf CR, Flück CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenet Genomics. 2009 Jul;19(7):565-6. doi: 10.1097/FPC.0b013e32832af5b7. PubMed citation


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