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Article

Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.

Annals of human genetics - 1 May 1990

Beutler E, Gelbart T

Abstract excerpt

In an earlier survey of the glucocerebrosidase locus using 20 restriction enzymes and a 1039 bp probe we found that 1 of 9 Gaucher disease patients had a unique pattern with KpnI. a pattern that was not observed in any other Gaucher patient or in 31 controls. We have now localized the mutation in this patient to a T----A transversion in nucleotide 764 of the cDNA occurring on one of the two glucocerebrosidase...

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Identifiers

PMID: 1974409
DOI: 10.1111/j.1469-1809.1990.tb00371.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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