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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM. Draper N, et al. Among authors: white pc. Nat Genet. 2003 Aug;34(4):434-9. doi: 10.1038/ng1214. Nat Genet. 2003. PMID: 12858176
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.
Nunez BS, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis LB, Palermo M, Shackleton C, White PC. Nunez BS, et al. Among authors: white pc. Hypertension. 1999 Oct;34(4 Pt 1):638-42. doi: 10.1161/01.hyp.34.4.638. Hypertension. 1999. PMID: 10523339
397 results