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Article

Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.

Human heredity - 1 Jan 2000

Carrera P, Ferrari M, Beccaro F, Spiga I, Zanussi M, Rigon F, Braggion F, Zacchello F, Greggio N

Abstract excerpt

Seventy Italian families affected by 21-hydroxylase deficiency were studied in order to evaluate the distribution of mutations. The coding P450c21B gene, the highly homologous P450c21A pseudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplification. In the affected individuals, 21.4% of the...

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PMID: 8330883
DOI: 10.1159/000154176

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

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