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Article

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.

Endocrine research - 1 Jan 2000

Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S, Bettendorf M, Hoepffner W, Heinrich U E, Schwabe U

Abstract excerpt

We studied 95 patients and their relatives with the classical salt wasting (SW) and simple virilizing (SV) form of CAH. SSCP/heteroduplex analysis allowed fast and efficient screening for the most common 21-hydroxylase mutations (e.g. deletions, splice site mutation in intron 2 (bp 656), Ile172Asn mutation in exon 4) and determination of the relative intensities of CYP21A and CYP21B genes. The splice site...

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PMID: 7588399
DOI: 10.3109/07435809509030452

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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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