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Article

Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.

Genetic testing - 1 Jan 1998

Rothberg P G, Baker D W, Bradley J F

Abstract excerpt

Congenital adrenal hyperplasia due to deficiency of steroid 21-hydroxylase (CYP21) is most frequently due to mutations that arise from the nearby CYP21 pseudogene. The mechanism involves either unequal crossing over, which deletes part of the CYP21 functional gene, or gene conversion which puts a mutation from the pseudogene into the functional gene. We have devised an assay to rapidly screen for five known...

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Source

Identifiers

PMID: 10464614
DOI: 10.1089/gte.1998.2.343

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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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