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

[Genetics of Gaucher's disease. Genotype-phenotype correlation].

Medicina clinica - 1 Sept 2011

Alfonso Palacín Pilar, Pocoví Miguel

Abstract excerpt

Gaucher's disease (GD) results from a deficiency of the lysosomal enzyme glucocerebrosidase and, in very rare occasions, a deficiency of its activator, the saposin C. The complexity of identification and characterization of mutations in the gene of glucocerebrosidase (GBA1) is caused by a great amount of mutated alleles, the existence of a highly homologous pseudogene and its location in a very rich zone in...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Gaucher Disease
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucosylceramidase

Share to Mutation Rate

Share to Polymorphism, Genetic

Share to Saposins

Share to Transcription, Genetic

Source

Identifiers

PMID: 22230121
DOI: 10.1016/S0025-7753(11)70012-4

Genes

GBA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetics of Gaucher's disease. Genotype-phenotype correlation].PMID 22230121Read ↗

[Gene analysis of Gaucher disease].Semantic proximity Read ↗

[Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].Semantic proximity Read ↗

[Clinical characteristics of the neurological forms of Gaucher's disease].Semantic proximity Read ↗

[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].Semantic proximity Read ↗

[From gene to disease; Gaucher disease].Semantic proximity Read ↗

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.Semantic proximity Read ↗

[Gaucher disease: clinical, genetic and therapeutic aspects].Semantic proximity Read ↗

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.Semantic proximity Read ↗

[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].Semantic proximity Read ↗

[Gaucher disease].Semantic proximity Read ↗

[An analysis of mutations causing Gaucher disease in Chinese population].Semantic proximity Read ↗

[Gaucher disease: achievements and prospects].Semantic proximity Read ↗

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