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Article

Expression of mutated glucocerebrosidase alleles in human cells.

Human molecular genetics - 1 Jun 1997

Pasmanik-Chor M, Madar-Shapiro L, Stein E O, Aerts H, Gatt S, Horowitz M

Abstract excerpt

Gaucher disease is a heterogeneous disease characterized by impaired activity of the lysosomal enzyme glucocerebrosidase. This heterogeneity is attributed to a large number of mutations in the corresponding gene. In order to test the biochemical properties of some mutations prevalent among Israel...

Topics

Alleles
Animals
Cell Line
Chlorocebus aethiops
Gene Expression
Genetic Vectors
Glucosylceramidase
Humans
Mutation
Protein Processing, Post-Translational
RNA
Recombination, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Vaccinia virus

Source

Identifiers

PMID: 9175735
DOI: 10.1093/hmg/6.6.887

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9175735-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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