Associated Papers
Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis.
Lai H et al.
Frontiers in Genetics, 2025
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
Neres MS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
Costenaro F et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
A single amino acid residue, Ala 105, confers 16alpha-hydroxylase activity to human cytochrome P450 17alpha-hydroxylase/17,20 lyase.
Swart AC et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2010
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Dhir V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.
Nájera N et al.
Endocrine Pathology, 2009
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
[An associated analysis of estrogen receptor 2 gene polymorphism linked with intrahepatic cholestasis of pregnancy].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene.
Müssig K et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide.
Maitland-van der Zee AH et al.
Pharmacogenetics and Genomics, 2005
Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
Di Cerbo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002