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

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

Human mutation - 1 Jan 1996

Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to DNA Primers
Share to Gaucher Disease
Share to Genetic Testing
Share to Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Structure, Secondary

Source

Identifiers

PMID: 8829663
DOI: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.PMID 8829663Read ↗

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.Semantic proximity Read ↗

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.Semantic proximity Read ↗

Detection of 12 new mutations in Gaucher disease Brazilian patients.Semantic proximity Read ↗

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.Semantic proximity Read ↗

A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.Semantic proximity Read ↗

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.Semantic proximity Read ↗

Glucocerebrosidase mutations in Gaucher disease.Semantic proximity Read ↗

Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.Semantic proximity Read ↗

Genetic and clinical features of patients with Gaucher disease in Hungary.Semantic proximity Read ↗

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)Semantic proximity Read ↗

Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.Semantic proximity Read ↗

Analysis of three mutations in Turkish children with Gaucher disease.Semantic proximity Read ↗

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