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Article

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

The Journal of clinical investigation - 1 May 1991

White P C, Dupont J, New M I, Leiberman E, Hochberg Z, Rösler A

Abstract excerpt

Steroid 11 beta-hydroxylase (P450c11) deficiency (failure to convert 11-deoxycortisol to cortisol) causes less than 10% of cases of congenital adrenal hyperplasia in most populations, but it is relatively frequent in Jews of Moroccan origin. P450c11 is encoded by the CYP11B1 gene which is located on chromosome 8q22 along with a homologous gene of unknown function, CYP11B2. To identify mutations in CYP11B1...

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Identifiers

PMID: 2022736
DOI: 10.1172/JCI115182
PMCID: PMC295260

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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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A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.PMID 2022736Read ↗

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

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.Semantic proximity Read ↗

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

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.Semantic proximity Read ↗

Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.Semantic proximity Read ↗

Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11β-Hydroxylase DeficiencySemantic proximity Read ↗

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

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.Semantic proximity Read ↗

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.Semantic proximity Read ↗

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.Semantic proximity Read ↗

A high rate of novel CYP11B1 mutations in Saudi Arabia.Semantic proximity Read ↗

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.Semantic proximity Read ↗

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