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Article

A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population.

Human genetics - 1 Feb 1994

Wedell A, Chun X, Luthman H

Abstract excerpt

We describe a steroid 21-hydroxylase allele carrying four disease-causing mutations, viz. I173N, V282L, I237N + V238E + M240K, and the insertion of T at 308 L. The first two are established causes of partial enzyme deficiency, whereas the last two are known to result in the most severe, salt-wasting form of the disease. All four mutations are normally found in the pseudogene. This abnormal allele was found in the...

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PMID: 8112748
DOI: 10.1007/BF00210612

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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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