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Article

Prevalent and rare mutations among Gaucher patients.

Gene - 15 Dec 1990

Eyal N, Wilder S, Horowitz M

Abstract excerpt

Sequence analysis of gcs cDNA (encoding glucocerebrosidase) or genomic fragments originated from Gaucher patients revealed novel mutations. Two rare mutations were found in a type-2 non-Jewish Gaucher patient: a G----A transition (Gly325----Arg) at nucleotide (nt) 5306 of the active gene and a T----G transversion (Cys342----Gly) at nt 5357. These mutations were not found in any other patient. A G----C...

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Identifiers

PMID: 2269438
DOI: 10.1016/0378-1119(90)90264-r

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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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