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Journal Abstract Search

84 related items for PubMed ID: 10720067

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  • 4. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):973-9. PubMed ID: 22217842
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  • 5. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
    Takeda Y, Yoneda T, Demura M, Furukawa K, Koshida H, Miyamori I, Mabuchi H.
    Clin Endocrinol (Oxf); 2001 Jun; 54(6):751-8. PubMed ID: 11422109
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  • 7. A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S.
    J Clin Endocrinol Metab; 1997 Jun; 82(6):1934-8. PubMed ID: 9177409
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  • 8. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.
    J Clin Endocrinol Metab; 2002 Feb; 87(2):898-905. PubMed ID: 11836339
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  • 10. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
    Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH.
    J Clin Endocrinol Metab; 2002 Dec; 87(12):5714-21. PubMed ID: 12466376
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  • 12. The genetic and functional basis of isolated 17,20-lyase deficiency.
    Geller DH, Auchus RJ, Mendonça BB, Miller WL.
    Nat Genet; 1997 Oct; 17(2):201-5. PubMed ID: 9326943
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  • 13. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
    Hahm JR, Kim DR, Jeong DK, Chung JH, Lee MS, Min YK, Kim KW, Lee MK.
    Metabolism; 2003 Apr; 52(4):488-92. PubMed ID: 12701064
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  • 14. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Rosa S, Steigert M, Lang-Muritano M, l'Allemand D, Schoenle EJ, Biason-Lauber A.
    Horm Res Paediatr; 2010 Apr; 73(3):198-204. PubMed ID: 20197673
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  • 15. Cytochrome P450 17alpha hydroxylase/17,20 lyase (CYP17) function in cholesterol biosynthesis: identification of squalene monooxygenase (epoxidase) activity associated with CYP17 in Leydig cells.
    Liu Y, Yao ZX, Papadopoulos V.
    Mol Endocrinol; 2005 Jul; 19(7):1918-31. PubMed ID: 15761033
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  • 17. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
    Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA.
    Eur J Endocrinol; 2008 Mar; 158(3):385-92. PubMed ID: 18299473
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  • 18. Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR.
    J Clin Endocrinol Metab; 1992 Mar; 74(3):667-72. PubMed ID: 1740503
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  • 19. Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
    Auchus RJ, Gupta MK.
    Endocr Res; 2002 Nov; 28(4):443-7. PubMed ID: 12530647
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