Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.

doi:10.1016/0960-0760(91)90078-j

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

Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.

The Journal of steroid biochemistry and molecular biology - 1 Jun 1991

Killeen A A, Sane K S, Orr H T

Abstract excerpt

The gene encoding steroid 21-hydroxylase activity, P450c21B, is located in the major histocompatibility complex (MHC) class III region, in close proximity to a highly homologous pseudogene, P450c21A. Recombinations between P450c21B and P450c21A have been shown to result in deficiency of 21-hydrox...

Topics

Adrenal Hyperplasia, Congenital
Amino Acid Sequence
Base Sequence
DNA
Female
Genes, MHC Class II
HLA-B Antigens
HLA-B44 Antigen
Humans
Leucine
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

Polymerase Chain Reaction

Proline

Pseudogenes

Recombination, Genetic

Source

Open in PubMed

Identifiers

PMID: 1905948
DOI: 10.1016/0960-0760(91)90078-j

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1905948-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 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 · 12 closest

Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.PMID 1905948Read ↗

Molecular pathology of 21-hydroxylase deficiency.Semantic proximity Read ↗

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 GeneSemantic proximity Read ↗

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

Molecular genetics of 21-hydroxylase deficiency.Semantic proximity Read ↗

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.Semantic proximity Read ↗

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.Semantic proximity Read ↗

Mutations in steroid 21-hydroxylase (CYP21).Semantic proximity Read ↗

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.Semantic proximity Read ↗

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

CYP21 mutations and congenital adrenal hyperplasia.Semantic proximity Read ↗

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