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Article

Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.

Journal of endocrinological investigation - 1 Jun 2000

Fardella C E, Poggi H, Soto J, Torrealba I, Cattani A, Ugarte F, Cortinez A, Foradori A

Abstract excerpt

Steroid 21-hydroxylase deficiency (21OHD) compromises about 95% of all cases of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 19 Chilean patients (12 females and 7 males) with the simple virilizing (SV) form of 21OHD and compared them with other SV-populations. Using allele-specific polymerase chain reaction, we identified lesions in 28...

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

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Identifiers

PMID: 10908170
DOI: 10.1007/BF03343746

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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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