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Article

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

Journal of medical genetics - 1 May 1996

Lee H H, Chao H T, Ng H T, Choo K B

Abstract excerpt

The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional CYP21P gene. Using the amplification created restriction site (ACRS) approach for direct mutational detection, a...

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Identifiers

PMID: 8733045
DOI: 10.1136/jmg.33.5.371
PMCID: PMC1050604

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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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