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Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000

Tsai C H, Lin W D, Tsai F J, Peng C T, Wu J Y

Abstract excerpt

Mutation analysis of CYP21A2 gene was performed in seven patients with congenital adrenal hyperplasia (CAH) by combining differential long template polymerase chain reaction (PCR) amplification and amplified created restriction site (ACRS) methods. All mutations were identified, including five alleles of deletions, three alleles of splicing (IVS2-12[C/A] > G), four alleles of Ile172Asn, and two alleles of...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 11431859

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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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