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Journal Abstract Search

181 related items for PubMed ID: 26345865

  • 1. New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.
    Xiao H, Zhang H, Li T, Wu D, Qin LT, Wang T, Zhang B, Liao SX.
    Genet Mol Res; 2015 Aug 10; 14(3):9318-24. PubMed ID: 26345865
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  • 2. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Sun M, Yan X, Feng A, Wu X, Ye E, Wu H, Lu X, Yang H.
    Discov Med; 2017 Nov 10; 24(133):175-182. PubMed ID: 29278670
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  • 5. [Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
    Chen Y, Wang W, Wang XM, Dong ZY, Xiao Y, Ni JH, Wang DF.
    Zhonghua Er Ke Za Zhi; 2009 Oct 10; 47(10):789-91. PubMed ID: 20021817
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  • 7. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T.
    Horm Res; 2001 Oct 10; 55(3):141-6. PubMed ID: 11549876
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  • 8. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
    Won GS, Chiu CY, Tso YC, Jenq SF, Cheng PS, Jap TS.
    Metabolism; 2007 Apr 10; 56(4):504-7. PubMed ID: 17379008
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  • 9. Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
    Rubtsov P, Nizhnik A, Dedov I, Kalinchenko N, Petrov V, Orekhova A, Spirin P, Prassolov V, Tiulpakov A.
    Eur J Endocrinol; 2015 May 10; 172(5):K19-25. PubMed ID: 25650406
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  • 11. [A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
    Jiang Y, Zhang D, Nie M, Xiao XH, Yu Q, Lu ZL.
    Zhonghua Yi Xue Za Zhi; 2011 Sep 13; 91(34):2416-9. PubMed ID: 22321788
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  • 12. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
    Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
    Metabolism; 2014 Jan 13; 63(1):42-9. PubMed ID: 24140098
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  • 14. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Jan 13; 9(2):91-7. PubMed ID: 25765894
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  • 15. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
    Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD.
    Clin Endocrinol (Oxf); 2010 Mar 13; 72(3):312-9. PubMed ID: 19508587
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  • 16. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
    Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2009 Aug 13; 94(8):3058-64. PubMed ID: 19454579
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  • 17. [New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].
    Tao H, Zhang B, Lu ZL, Pei Y, Mi SH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Feb 13; 24(1):19-22. PubMed ID: 17285537
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  • 18. Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
    Wei JQ, Wei JL, Li WC, Bi YS, Wei FC.
    J Clin Endocrinol Metab; 2006 Sep 13; 91(9):3647-53. PubMed ID: 16822828
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  • 19. [Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency].
    Yang K, Zhang B, Cui SX, Guo QN, Hou QF, Li QC, Liao SX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Aug 13; 30(4):439-42. PubMed ID: 23926012
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  • 20. Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17alpha-hydroxylase/17,20-lyase deficiency.
    Yao F, Qinjie T.
    Hum Genet; 2009 Aug 13; 126(2):340. PubMed ID: 19694020
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