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Article

Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.

American journal of medical genetics - 4 Sept 2000

Yokoyama Y, Teraoka M, Tsuji K, Ninomiya S, Inoue C, Yamashita S, Narahara K, Seino Y

Abstract excerpt

To facilitate a rapid and practical molecular diagnosis of 21-hydroxylase deficiency (21-OHD), we developed a polymerase chain reaction (PCR) test in which only the 21-OH gene (CYP21) is amplified. We applied the test to diagnose 23 patients with salt-wasting type of 21-OHD. The upstream and downstream sequences of CYP21 have been specifically amplified by using a primer set containing the 8-bp deletion sequence...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10982478
DOI: 10.1002/1096-8628(20000904)94:1<28::aid-ajmg6>3.0.co;2-f

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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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