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Article

[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi - 3 Mar 2020

Gao Y J, Yu B Q, Lu L, Wu X Y, Mao J F, Wang X, Tong A L, Chen S, Nie M

Abstract excerpt

Objective: To analyze the detection of CYP21A2 gene mutations in 21-hydroxylase deficiency (21-OHD) patients, so as to determine the accuracy of clinical diagnosis. Methods: Totally, 514 patients with 21-OHD who visited Peking Union Medical College Hospital from January 2015 to January 2018 were enrolled and their clinical and biochemical data were collected. DNAs were extracted from peripheral blood leukocytes...

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Identifiers

PMID: 32164112
DOI: 10.3760/cma.j.issn.0376-2491.2020.08.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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