Discover Community Create You

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

Article

de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.

The Journal of clinical endocrinology and metabolism - 1 Jul 1993

Tajima T, Fujieda K, Fujii-Kuriyama Y

Abstract excerpt

Over 90% of congenital adrenal hyperplasia (CAH) results from 21-hydroxylase deficiency. Because the CYP21B gene is located within the HLA complex and is very tightly linked to HLA markers, HLA typing is widely used for prenatal diagnosis and identifying heterozygous family members. In the course of a study on identification of heterozygous family members with HLA typing, we recognized an unusual family case in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to DNA
Share to Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8325964
DOI: 10.1210/jcem.77.1.8325964

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.PMID 8325964Read ↗

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

The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.Semantic proximity Read ↗

Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.Semantic proximity Read ↗

Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.Semantic proximity Read ↗

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.Semantic proximity Read ↗

The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.Semantic proximity Read ↗

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

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Semantic proximity Read ↗

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.Semantic proximity Read ↗

Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.Semantic proximity Read ↗

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

Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.Semantic proximity Read ↗

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