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CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jun 2014

Wang Yue-Ping, Zhao Yun-Jing, Zhou Guang-Yu, He Bing

Abstract excerpt

The aim of this study was to analyze the structural consequences of the mutations in CYP17A1 gene and their relationship with the variations of clinical manifestations in three patients who presented with complete or partial combined 17α-hydroxylase/17,20-lyase deficiency (17OHD). DNA sequences of the coding exons and intron/exon boundaries of the CYP17A1 gene were analyzed for mutations. In silico analysis with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24597476
DOI: 10.3109/09513590.2014.895980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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