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 genetic testing for Gaucher disease by reverse hybridization.

Annals of clinical biochemistry - 1 Jul 2003

Halsall David J, Kriegshäuser Gernot, Moritz Anne, Elsey Terence S, Oberkanins Christian

Abstract excerpt

BACKGROUND: We evaluated a reverse hybridization method for the simultaneous detection of nine mutations that are associated with Gaucher disease. RESULTS AND CONCLUSION: Results were in agreement with those obtained by a polymerase chain reaction-restriction digestion method. The hybridization m...

Read the complete abstract on PubMed

Topics

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

Share to Gaucher Disease
Share to Genetic Testing
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nucleic Acid Hybridization

Share to Point Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 12880546
DOI: 10.1258/000456303766477093

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12880546-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid genetic testing for Gaucher disease by reverse hybridization.PMID 12880546Read ↗

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.Semantic proximity Read ↗

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening.Semantic proximity Read ↗

A new diagnostic test for Gaucher disease suitable for population screening.Semantic proximity Read ↗

Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.Semantic proximity Read ↗

Genetic diagnosis of Gaucher's disease.Semantic proximity Read ↗

Mutation analysis of 28 Gaucher disease patients: the Australasian experience.Semantic proximity Read ↗

Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry.Semantic proximity Read ↗

Microdissection genotyping of archival fixative treated tissue for Gaucher disease.Semantic proximity Read ↗

Three unique base pair changes in a family with Gaucher disease.Semantic proximity Read ↗

DNA enzyme immunoassay: a rapid and convenient colorimetric method for diagnosis of cystic fibrosis.Semantic proximity Read ↗

A fluorescent multiplex ARMS method for rapid mutation analysis.Semantic proximity Read ↗

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.Semantic proximity Read ↗

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