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Article

[Multiplex minisequencing applied in detection of human functional CYP21 gene mutations].

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2007

Tokarska Małgorzata, Barg Ewa, Wikiera Beata, Dobosz Tadeusz, Zołedziewska Magdalena, Brzezińska Katarzyna, Jonkisz Anna, Kosowska Barbara

Abstract excerpt

We analyzed seven most common mutations within the CYP21B gene, responsible for congenital adrenal hyperplasia (CAH), using the minisequencing method. Functional CYP21B gene sequences were amplified with the pair of specific primers that pevented amplification of pseudogene CYP21P or pseudogene CYP21P/active CYP21 hybrids. Multiplex minisequencing (SNaPShot PCR) assay was performed with fluorescent...

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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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Share to Polymorphism, Single Nucleotide

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PMID: 18042312

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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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