Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.

doi:10.1210/mend-4-9-1354

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.

Molecular endocrinology (Baltimore, Md.) - 1 Sept 1990

Donohoue P A, Sandrini Neto R, Collins M M, Migeon C J

Abstract excerpt

A point mutation within exon 7 producing an amino acid coding change and a recognition site for the endonuclease Ncol has been reported in the HLA-Bw47-linked CYP21A pseudogene and some mutant CYP21B (steroid 21-hydroxylase) genes of patients with congenital adrenal hyperplasia (CAH). Whether this mutation is deleterious was not demonstrated. We analyzed DNA from various subjects for the presence of the exon 7...

Topics

Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Base Sequence
Chromosome Deletion
Deoxyribonucleases, Type II Site-Specific
Exons
Female
HLA-B Antigens
Heterozygote
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Restriction Mapping

Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 1978247
DOI: 10.1210/mend-4-9-1354

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1978247-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.PMID 1978247Read ↗

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.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 ↗

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.Semantic proximity Read ↗

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.Semantic proximity Read ↗

A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.Semantic proximity Read ↗

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.