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Article

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

Clinical endocrinology - 1 Feb 2002

Dain Liliana B, Buzzalino Noemí D, Oneto Adriana, Belli Susana, Stivel Mirta, Pasqualini Titania, Minutolo Carolina, Charreau Eduardo H, Alba Liliana G

Abstract excerpt

OBJECTIVE: To characterize the molecular basis of the 21-hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease. DESIGN: To analyse the frequency of point mutations in the CYP21 gene by DNA amplification and mutation detection. PATIENTS: Forty-one patients from 36 nonrelated families: 25 nonclassical (NC), 11 salt-wasting (SW) and five simple...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11874416
DOI: 10.1046/j.0300-0664.2001.01419.x

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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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