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

Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.

American journal of clinical pathology - 1 Jun 1990

Zimran A, Kuhl W C, Beutler E

Abstract excerpt

The authors applied the polymerase chain reaction- (PCR) based color complementation assay for rapid detection of the 1226 ("Jewish") mutation of the glucocerebrosidase gene. Fifty-seven unrelated patients with Gaucher's disease and 50 unrelated normal Ashkenazi Jewish volunteers were studied. This mutation was identified in more than 75% of the Jewish Gaucher's disease alleles and in 4 (8%) of the 50 normal...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged
Share to Alleles

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

Share to Child, Preschool

Share to Infant

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 2346136
DOI: 10.1093/ajcp/93.6.788

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

Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.PMID 2346136Read ↗

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Semantic proximity Read ↗

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.Semantic proximity Read ↗

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.Semantic proximity Read ↗

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.Semantic proximity Read ↗

Mutations in Jewish patients with Gaucher disease.Semantic proximity Read ↗

Identification of six new Gaucher disease mutations.Semantic proximity Read ↗

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.Semantic proximity Read ↗

Gaucher disease mutations in non-Jewish patients.Semantic proximity Read ↗

Mutations in Jewish patients with Gaucher diseaseSemantic proximity Read ↗

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.Semantic proximity Read ↗

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?Semantic proximity Read ↗

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.Semantic proximity Read ↗

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