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Article

Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population.

Human genetics - 1 Sept 1996

Tusié-Luna M T, Ramírez-Jiménez S, Ordóñez-Sánchez M L, Cabello-Villegas J, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Mendoza-Morfín F, Méndez J P, Terán-García M

Abstract excerpt

Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21 gene. Approximately 95% of mutant alleles are generated by recombination events between the active gene CYP21 and its highly homologous pseudogene, CYP21P. Deletion alleles are generated by unequal crossing over, while point mutations are the result of gene conversion events. Deletions account for 20-25% of the 21-hydroxylase deficiency alleles...

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PMID: 8707311
DOI: 10.1007/s004390050224

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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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