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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 Israeli populations, the normal human glucocerebrosidase cDNA and cDNAs carrying mutations N370S, L444P, D409H, recTL,...

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Identifiers

PMID: 9175735
DOI: 10.1093/hmg/6.6.887

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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.

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