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Article

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.

The Journal of clinical endocrinology and metabolism - 1 Jun 1996

Skinner C A, Rumsby G, Honour J W

Abstract excerpt

The adrenal 11 beta-hydroxylase is a mitochondrial P450 enzyme encoded by the CYP11B1 gene, which is situated on chromosome 8q22 in tandem with the gene for aldosterone synthase (CYP11B2). Deficiency of 11 beta-hydroxylase results in the inability to convert 11-deoxycortisol to cortisol and accounts for 5-8% of cases of congenital adrenal hyperplasia. In the following study the CYP11B1 genes from eight...

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PMID: 8964882
DOI: 10.1210/jcem.81.6.8964882

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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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Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.PMID 8964882Read ↗

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