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Journal Abstract Search

163 related items for PubMed ID: 2335573

  • 1. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.
    Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.
    J Clin Endocrinol Metab; 1990 May; 70(5):1325-9. PubMed ID: 2335573
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  • 3. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
    Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR.
    Mol Endocrinol; 1991 Dec; 5(12):2037-45. PubMed ID: 1665206
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  • 4. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.
    Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR.
    Mol Cell Endocrinol; 1988 Oct; 59(3):249-53. PubMed ID: 3263289
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  • 6. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
    Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR.
    Mol Endocrinol; 1988 Jun; 2(6):564-70. PubMed ID: 2843762
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  • 11. Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR.
    J Biol Chem; 1989 Oct 25; 264(30):18076-82. PubMed ID: 2808364
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  • 12. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov 25; 97(3):257-65. PubMed ID: 16176874
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  • 13. A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency.
    Suzuki Y, Nagashima T, Nomura Y, Onigata K, Nagashima K, Morikawa A.
    J Clin Endocrinol Metab; 1998 Jan 25; 83(1):199-202. PubMed ID: 9435441
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  • 14. Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.
    Rumsby G, Skinner C, Lee HA, Honour JW.
    Clin Endocrinol (Oxf); 1993 Oct 25; 39(4):483-5. PubMed ID: 8287576
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  • 16. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
    Martin RM, Oliveira PS, Costa EM, Arnhold IJ, Mendonca BB.
    Arq Bras Endocrinol Metabol; 2008 Nov 25; 52(8):1317-20. PubMed ID: 19169487
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  • 18. Disorders of steroid 17 alpha-hydroxylase deficiency.
    Kater CE, Biglieri EG.
    Endocrinol Metab Clin North Am; 1994 Jun 25; 23(2):341-57. PubMed ID: 8070426
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  • 19. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec 25; 43(8):973-9. PubMed ID: 22217842
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  • 20. A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency.
    Monno S, Mizushima Y, Toyoda N, Kashii T, Kobayashi M.
    Ann Hum Genet; 1997 May 25; 61(Pt 3):275-9. PubMed ID: 9250356
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