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Article

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Human mutation - 1 Feb 2009

Bleicken Caroline, Loidi Lourdes, Dhir Vivek, Parajes Silvia, Quinteiro Celsa, Dominguez Fernando, Grötzinger Joachim, Sippell Wolfgang G, Riepe Felix G, Arlt Wiebke, Krone Nils

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase (CYP21A2) deficiency is the commonest inborn error in steroid hormone biosynthesis. Functional in vitro assessment of mutant activity generally correlates well with clinical phenotype and therefore has contributed greatly to phenotype prediction in this CAH variant. Three CYP21A2 sequence variants (g.1641C>T, p.A265V; g.1752G>C, p.W302S; and...

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PMID: 19058224
DOI: 10.1002/humu.20926

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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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