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

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

Human genetics - 1 Sept 1994

Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle F E

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 Deoxyribonucleases, Type II Site-Specific
Share to Exons
Share to Gaucher Disease
Share to Glucosylceramidase

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

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8076951
DOI: 10.1007/BF00208292

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

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.PMID 8076951Read ↗

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

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.Semantic proximity Read ↗

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.Semantic proximity Read ↗

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

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.Semantic proximity Read ↗

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.Semantic proximity Read ↗

Glucocerebrosidase mutations in Gaucher disease.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 ↗

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.Semantic proximity Read ↗

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.Semantic proximity Read ↗

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.Semantic proximity Read ↗

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activitySemantic proximity Read ↗

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