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Journal Abstract Search

165 related items for PubMed ID: 22964742

  • 1. A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.
    Zhang M, Liu Y, Sun S, Zhang H, Wang W, Ning G, Li X.
    J Steroid Biochem Mol Biol; 2013 Jan; 133():25-9. PubMed ID: 22964742
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  • 2. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
    Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.
    Steroids; 2015 Aug; 100():11-6. PubMed ID: 25911436
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  • 3. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
    Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M.
    J Steroid Biochem Mol Biol; 2021 Jul; 211():105882. PubMed ID: 33785438
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  • 4. Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
    Wu C, Zhou Q, Wan L, Ni L, Zheng C, Qian Y, Jin J.
    Fertil Steril; 2011 Mar 01; 95(3):1122.e3-6. PubMed ID: 20947076
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  • 8. Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
    Xu L, Xia W, Wu X, Wang X, Zhao L, Nie M.
    Steroids; 2015 Sep 01; 101():51-5. PubMed ID: 26066897
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  • 10. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gu C, Tan H, Yang J, Lu Y, Ma Y.
    Gene; 2017 Aug 30; 626():89-94. PubMed ID: 28514642
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  • 15. Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
    Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JA, Connell JM, Ray DW, Arlt W, Krone N.
    Clin Endocrinol (Oxf); 2015 Nov 30; 83(5):629-35. PubMed ID: 26053152
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  • 18. Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
    Liu H, Liu F, Wei Z, Liu P, Liu Q, Chen L, Hou X.
    Endocrine; 2024 Apr 30; 84(1):253-264. PubMed ID: 38285409
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