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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...

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

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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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