A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
Author:
Affiliation:
1. Department of Urology, Shandong Provincial Hospital, affiliated to Shandong First Medical University, Jinan, China
Publisher
Informa UK Limited
Subject
Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.tandfonline.com/doi/pdf/10.1080/09513590.2020.1822799
Reference16 articles.
1. Disorders of Steroid 17α-Hydroxylase Deficiency
2. THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
3. 17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*
4. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic
5. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.
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