Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Reference14 articles.
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4. Demonstration of steroid 17α-hydroxylase activity in human fetal kidney, thymus, and spleen
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1. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report;Medicine;2023-12-29
2. Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency;Genetic Steroid Disorders;2023
3. An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature;Frontiers in Endocrinology;2022-10-19
4. Inherited forms of mineralocorticoid hypertension;Best Practice & Research Clinical Endocrinology & Metabolism;2015-08
5. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency;The Journal of Steroid Biochemistry and Molecular Biology;2015-06
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