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Article

High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.

The Journal of clinical investigation - 1 Oct 1990

Sorge J, Gross E, West C, Beutler E

Abstract excerpt

Gaucher disease is due to mutations involving the glucocerebrosidase gene. A closely homologous pseudogene is located approximately 16 kD downstream from the functional gene. Sequence analysis of clones from cDNA libraries made from skin fibroblast cultures showed several independent clones with...

Topics

Base Sequence
DNA
Gaucher Disease
Glucosylceramidase
Humans
Mutation
Polymerase Chain Reaction
Pseudogenes
RNA
Transcription, Genetic

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1698821
DOI: 10.1172/JCI114818
PMCID: PMC296842

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1698821-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.PMID 1698821Read ↗

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