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Article

Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre - 1 Jan 2000

Kotaska Karel, Průsa Richard

Abstract excerpt

OBJECTIVE: To undertake mutational analysis in patients with different forms of steroid 21-hydroxylase deficiency. SUBJECTS AND METHODS: CYP21 gene molecular analysis was performed in 76 Czech patients diagnosed with steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8bp deletion in exon 3, I172N, V281L, Q318X, R356W, and P453S) were analyzed using an...

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Identifiers

PMID: 12966197
DOI: 10.1159/000072291

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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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