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

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Human genetics - 1 Mar 1992

Speiser P W, New M I, Tannin G M, Pickering D, Yang S Y, White P C

Abstract excerpt

An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Genotype
Share to HLA Antigens

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

Share to Mutation

Share to Oligonucleotide Probes

Source

Identifiers

PMID: 1551668
DOI: 10.1007/BF02265290

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 · 9 closest

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.PMID 1551668Read ↗

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.Semantic proximity Read ↗

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.Semantic proximity Read ↗

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.Semantic proximity Read ↗

Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.Semantic proximity Read ↗

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.Semantic proximity Read ↗

Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous.Semantic proximity Read ↗

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.Semantic proximity Read ↗

Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.Semantic proximity Read ↗

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