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Article

Sequence of two alleles responsible for Gaucher disease.

DNA and cell biology - 1 May 1990

Hong C M, Ohashi T, Yu X J, Weiler S, Barranger J A

Abstract excerpt

Enzymatically amplified RNA transcripts were used to analyze the full coding region of the glucocerebrosidase gene from Gaucher disease patients. Two previously undescribed mutations were identified. One mutation consists of a single-base substitution in three different codons: codon 444, Leu (CTG) to Pro (CCG); codon 456, Ala (GCT) to Pro (CCT); and codon 460, Val (GTG) to Val (GTC). This mutant is called...

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Identifiers

PMID: 1972019
DOI: 10.1089/dna.1990.9.233

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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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