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Article

KIR genes and HLA class I ligands in Gaucher disease.

Gene - 1 Mar 2013

Vairo Filippo, Portela Pâmela, Salim Patrícia H, Jobim Mariana, Netto Cristina, Dorneles Alicia, Mittlestadt Suzana, Jobim Luiz Fernando, Schwartz Ida Vanessa D

Abstract excerpt

UNLABELLED: Gaucher disease (GD) is caused by reduced activity of the lysosomal enzyme glucocerebrosidase, which leads to a buildup of glucocerebroside within the cells and chronic stimulation of the immune system. GD is associated with clinical variability even in the same family, which suggests the influence of modifier genes. Natural killer (NK) cells play an important role in the immune response, and their...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23266622
DOI: 10.1016/j.gene.2012.12.014

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.

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