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Article

Identification of Modifier Genes in a Mouse Model of Gaucher Disease.

Cell reports - 6 Sept 2016

Klein Andrés D, Ferreira Natalia-Santos, Ben-Dor Shifra, Duan Jingjing, Hardy John, Cox Timothy M, Merrill Alfred H, Futerman Anthony H

Abstract excerpt

Diseases caused by single-gene mutations can display substantial phenotypic variability, which may be due to genetic, environmental, or epigenetic modifiers. Here, we induce Gaucher disease (GD), a rare inherited metabolic disorder, by injecting 15 inbred mouse strains with a low dose of a chemical inhibitor of acid β-glucosidase, the enzyme defective in GD. Different mouse strains exhibit widely different...

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Source

Identifiers

PMID: 27568557
DOI: 10.1016/j.celrep.2016.07.085

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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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