1 | CYP11B2, GPLD1, STAR
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| Phospholipase D activity underlies very-low-density lipoprotein (VLDL)-induced aldosterone production in adrenal glomerulosa cells.
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| Tsai YY, Rainey WE, Pan ZQ, Frohman MA, Choudhary V, Bollag WB.
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| Endocrinology 155(9):3550-60. doi: 10.1210/en.2014-1159. Epub 2014 Jun 23.
2014
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2 | APEX1, CYP11B2
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| APEX1 regulation of aldosterone synthase gene transcription is disrupted by a common polymorphism in humans.
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| McManus F, Sands W, Diver L, MacKenzie SM, Fraser R, Davies E, Connell JM.
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| Circ Res 111(2):212-9. doi: 10.1161/CIRCRESAHA.111.262931. Epub 2012 May 31.
2012
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3 | CYP11B1, CYP11B2
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| Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.
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| Zhang GX, Wang BJ, Ouyang JZ, Deng XY, Ma X, Li HZ, Wu Z, Liu SL, Xu H, Zhang X.
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| Hypertens Res 33(5):478-84. Epub 2010 Mar 26.PMID: 20339375 2010
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4 | CYP11B2, GSH
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| Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.
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| Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R.
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| Mol Genet Metab 100(4):357-64. Epub 2010 May 21.PMID: 20494601 2010
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5 | CMO1, CYP11B2
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| A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.
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| Løvås K, McFarlane I, Nguyen HH, Curran S, Schwabe J, Halsall D, Bernhardt R, Wallace AM, Chatterjee VK.
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| J Clin Endocrinol Metab 94(3):914-9. Epub 2008 Dec 30.
2009
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6 | CYP11B1, CYP11B2, NR5A1
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| Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.
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| Ye P, Nakamura Y, Lalli E, Rainey WE.
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| Endocrinology 150(3):1303-9. Epub 2008 Oct 30.PMID: 18974272 2009
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7 | CYP11B2
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| Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene.
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| Nguyen HH, Hannemann F, Hartmann MF, Wudy SA, Bernhardt R.
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| Mol Genet Metab 93(4):458-67. Epub 2008 Feb 21. 2008
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8 | CYP11B2
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| Investigation of major genetic polymorphisms in the Renin-Angiotensin-aldosterone system in subjects with young-onset hypertension selected by a targeted-screening system at university.
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| Miyama N, Hasegawa Y, Suzuki M, Hida W, Kazama I, Hatano R, Sanada S, Arata T, Michimata M, Sato A, Satomi S, Matsubara M.
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| Clin Exp Hypertens 29(1):61-7. 2007
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9 | AGTR1, CYP11B2, AGT, CMA1, ACE
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| RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy.
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| Kaufman BD, Auerbach S, Reddy S, Manlhiot C, Deng L, Prakash A, Printz BF, Gruber D, Papavassiliou DP, Hsu DT, Sehnert AJ, Chung WK, Mital S.
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| Hum Genet 122(5):515-23. Epub 2007 Sep 13. 2007
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10 | CYP11B2, PRKCE
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| Novel protein kinase C-epsilon inhibits human CYP11B2 gene expression through ERK1/2 signalling pathway and JunB.
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| LeHoux JG, Lefebvre A.
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| J Mol Endocrinol 36(1):51-64. 2006
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11 | CYP11B2
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| Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.
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| Keavney B, Mayosi B, Gaukrodger N, Imrie H, Baker M, Fraser R, Ingram M, Watkins H, Farrall M, Davies E, Connell J.
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| J Clin Endocrinol Metab 90(2):1072-7. Epub 2004 Nov 2. 2005
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12 | CYP11B1,CYP11B2
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| Molecular identity and gene expression of aldosterone synthase cytochrome P450.
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| Okamoto M, Nonaka Y, Takemori H, Doi J.
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| Biochem Biophys Res Commun 338(1):325-30. Epub 2005 Aug 10. Review. 2005
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13 | CYP11B2
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| Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese.
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| Gu D, Ge D, He J, Li B, Chen J, Liu D, Chen J, Chen R.
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| Clin Genet 66(5):409-16. 2004
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14 | CYP11A1, CYP11B1, CYP11B2, CYP17A1D, CYP19A1, GATA4, NR0B1, NR2F1, NR2F2, NR5A1, PCNA, COPS2
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| DAX1 and its network partners: exploring complexity in development.
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| Clipsham R, McCabe ER.
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| Mol Genet Metab 80(1-2):81-120. 2003
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15 | CYP11B2
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| Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension.
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| Kumar NN, Benjafield AV, Lin RC, Wang WY, Stowasser M, Morris BJ.
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| J Hypertens 21(7):1331-7. 2003
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16 | FHA2, GSH, CYP11B2
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| New genetic insights in familial hyperaldosteronism.
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| Jackson RV, Lafferty A, Torpy DJ, Stratakis C.
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| Ann N Y Acad Sci 970:77-88. Review. 2002
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17 | CYP11A1, CYP11B1, CYP11B2, CYP21A2
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| Steroidogenic enzyme gene expression in the human heart.
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| Kayes-Wandover KM, White PC.
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| J Clin Endocrinol Metab 85(7):2519-25. 2000
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18 | CYP11B2
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| Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2.
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| Davies E, et al.
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| Hypertension 33(2):703-7. 1999
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19 | ADRA2A, ADRB1, AGTR1, CAFG, CD36, CETP, CSF1, CSF2, CYP11B2, ECE1, EDN1, EDNRA, EDNRB, EGR1, F2R, FGA, FGB, FHBL1, HGF, ICAM1, IGF1, IL1A, IL6, LPA, MGP, MSR1, MTTP, NOS2, NOS3, PDGFA, PDGFRA, SELP, TGFB1, TNF, VCAM1, VDR
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| Sequence diversity in 36 candidate genes for cardiovascular disorders.
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| Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L.
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| Am J Hum Genet 65(1):183-91. 1999
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20 | CYP11B2
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| Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3.
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| Taymans SE, et al.
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| J Clin Endocrinol Metab 83 : 1033-1036. 1998
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21 | CYP11B2
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| Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.
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| Peter M, et al.
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| Eur J Endocrinol 139 : 96-100. 1998
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22 | CYP11B2
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| Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
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| Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y.
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| J Clin Endocrinol Metab 83 : 4156-4161. 1998
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23 | CYP11B2, CMO1
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| CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
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| Nomoto S, Massa G, Mitani F, Ishimura Y, Miyahara K, Toda K, Nagano I, Yamashiro T, Ogoshi S, Fukata J, Onishi S, Hashimoto K, Doi Y, Imura H, Shizuta Y.
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| Biochem Biophys Res Commun 234(2):382-5. 1997
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24 | CYP11B2, CMO2
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| Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.
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| Fardella CE, et al.
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| J Clin Endocrinol Metab 81 : 321-326. 1996
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25 | CYP11B2, CMO2
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| Mutation T3I8M in the CYPIIB2 gene encoding P450cIIAS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
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| Zhang G, et al.
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| Am J Hum Genet 57 : 1037-1043. 1995
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26 | CYP11B@, CYP11B1, CYP11B2
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| Four is not more than two.
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| Russell DW, et al.
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| Am J Hum Genet 57 : 1002-1005. 1995
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27 | CYP11B2
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| A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11beta-hydroxylase genes defects.
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| Clot F, et al.
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| Hum Genet 94 : 316-317. 1994
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28 | CYP11B2, CMO1
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| Congenitally defective aldosterone biosynthesis in humans : inactivation of the P-450-C18 gene (CYP11B2) due to nucleotide deletion in CMO1 deficient patients.
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| Mitsuuchi Y, et al.
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| Biochem Biophys Res Commun 190 : 864-869. 1993
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29 | CYP11B1, CYP11B2, GSH
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| A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
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| Lifton RP, et al.
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| Nature 355 : 262-265. 1992
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30 | CYP11B2
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| Congenitally defective aldosterone biosynthesis in humans : the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMOII deficient patients.
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| Mitsuuchi Y, et al.
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| Biochem Biophys Res Commun 182 : 974-979. 1992
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31 | CYP11B2, CMO2
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| Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
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| Pascoe L, et al.
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| Proc Natl Acad Sci U S A 89 : 4996-5000. 1992
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32 | CYP11B1, CYP11B2, GSH
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| Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.
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| Lifton RP, et al.
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| Nat Genet 2 : 66-74. 1992
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33 | GSH, CYP11B1, CYP11B2
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| The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity.
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| Miyahara K, et al.
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| Biochem Biophys Res Commun 189 : 885-891. 1992
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34 | CYP11B2, CMO2
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| Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene.
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| Mayerova A, et al.
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| Hum Genet 87 : 97-98. 1991
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35 | CYP11B2
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| The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.
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| Curnow KM, et al.
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| Mol Endocrinol 5 : 1513-1522. 1991
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36 | CYP11B2
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| Cloning and expression of a cDNA for human cytochrome P-450-aldo as related to primary aldosteronism.
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| Kawamoto T, et al.
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| Biochem Biophys Res Commun 173 : 309-316. 1990
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37 | CYP11B2
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| An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.
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| Globerman H, et al.
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| N Engl J Med 319 : 1193-1197. 1988
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38 | CYP11B2, GSH
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| Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone.
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| Sutherland DJ, et al.
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| Can Med Assoc J 95 : 1109-1119. 1966
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