Associated Papers
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency.
Lee LS et al.
Molecular and Cellular Endocrinology, 2006
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Biason-Lauber A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 1999
Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
Laflamme N et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
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