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Article

Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran.

The Journal of steroid biochemistry and molecular biology - 1 Apr 1993

Rösler A, White P C

Abstract excerpt

Steroid 11 beta-hydroxylase is encoded by two homologous genes, CYP11B1 and CYP11B2, located on chromosome 8q21-22. CYP11B1 encodes a specific cytochrome P-450 (P-450c11) necessary for cortisol biosynthesis, with predominantly 11 beta-hydroxylase and moderate 18-hydroxylase activity, whereas CYP11B2 encodes another isozyme (P-450cmo) necessary for aldosterone biosynthesis, with 11 beta-hydroxylase, 18-hydroxylase...

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Source

Identifiers

PMID: 8481357
DOI: 10.1016/0960-0760(93)90128-j

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GCG

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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.

Related research

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Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran.PMID 8481357Read ↗

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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.Semantic proximity Read ↗

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.Semantic proximity Read ↗

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.Semantic proximity Read ↗

Disorders of steroid 11 beta-hydroxylase isozymes.Semantic proximity Read ↗

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.Semantic proximity Read ↗

Mutations in CYP11B1 gene: phenotype-genotype correlations.Semantic proximity Read ↗

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Steroid 11 beta-hydroxylase deficiency and related disorders.Semantic proximity Read ↗

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Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.Semantic proximity Read ↗

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