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Article

[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].

Medicina - 1 Jan 2001

Dardis A, Marino R, Bergadá I, Escobar M E, Gryngarten M, Rivarola M A, Belgorosky A

Abstract excerpt

Most cases (90%) of congenital adrenal hyperplasia (CAH) are secondary to steroid 21-hydroxylase enzyme deficiency (P450c21). In human, the P450c21 gene (CYP21B) is present along with a non functional pseudogene (CYP21A). These genes, located in chromosome 6, present a sequence homology of 98%. This high homology and the complexity of this gene locus brings about considerable difficulties in its molecular...

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PMID: 11265620

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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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Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.Semantic proximity Read ↗

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