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

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

Human genetics - 1 Jun 1997

le Coutre P, Demina A, Beutler E, Beck M, Petrides P E

Abstract excerpt

Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alleles
Share to Child

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

Share to Child, Preschool

Share to Genotype

Share to Mutation

Share to Phenotype

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 9187679
DOI: 10.1007/s004390050454

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

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.PMID 9187679Read ↗

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

Mutations in Jewish patients with Gaucher diseaseSemantic proximity Read ↗

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

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.Semantic proximity Read ↗

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.Semantic proximity Read ↗

Gaucher disease in Spanish patients: analysis of eight mutations.Semantic proximity Read ↗

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.Semantic proximity Read ↗

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

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

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.Semantic proximity Read ↗

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

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.Semantic proximity Read ↗

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