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

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.

The Journal of clinical endocrinology and metabolism - 1 May 1995

Wilson R C, Wei J Q, Cheng K C, Mercado A B, New M I

Abstract excerpt

Rapid DNA analysis based on allele-specific polymerase chain reaction (PCR) using mutation site-specific primers was developed to detect mutations in the CYP21 gene known to cause steroid 21-hydroxylase deficiency. In contrast to the previous method, in which PCR of genomic DNA was followed by dot blot analysis with radioactive probes and multiple rounds of stripping and reprobing for each of the 8 most common...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence

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

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Time Factors

Source

Identifiers

PMID: 7745011
DOI: 10.1210/jcem.80.5.7745011

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

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.PMID 7745011Read ↗

Rapid screening method for detecting mutations in the 21-hydroxylase gene.Semantic proximity Read ↗

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 ↗

Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.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 ↗

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.Semantic proximity Read ↗

Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.Semantic proximity Read ↗

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.Semantic proximity Read ↗

Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.Semantic proximity Read ↗

The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.Semantic proximity Read ↗

Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction.Semantic proximity Read ↗

21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.Semantic proximity Read ↗

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