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Article

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Endocrine - 1 Sept 2015

Fernández Cecilia S, Bruque Carlos D, Taboas Melisa, Buzzalino Noemí D, Espeche Lucia D, Pasqualini Titania, Charreau Eduardo H, Alba Liliana G, Ghiringhelli Pablo D, Dain Liliana

Abstract excerpt

The aim of the current study was to search for the presence of genetic variants in the CYP21A2 Z promoter regulatory region in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Screening of the 10 most frequent pseudogene-derived mutations was followed by direct sequencing of the entire coding sequence, the proximal promoter, and a distal regulatory region in DNA samples from patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 26184415
DOI: 10.1007/s12020-015-0680-0

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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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