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Article

Polymorphisms in the human glucocerebrosidase gene.

Genomics - 1 Apr 1992

Beutler E, West C, Gelbart T

Abstract excerpt

The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone. Sequence analysis revealed that there were 11 additional differences between...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
Gaucher Disease
Glucosylceramidase
Haplotypes
Humans
Molecular Sequence Data
Polymorphism, Genetic
Pseudogenes

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Identifiers

PMID: 1572652
DOI: 10.1016/0888-7543(92)90311-f

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1572652-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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