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Article

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

American journal of human genetics - 1 May 1990

Zimran A, Gelbart T, Beutler E

Abstract excerpt

We have localized the PvuII polymorphism of the glucocerebrosidase gene complex to intron 6 of the active gene. Using the polymerase chain reaction (PCR) to amplify intron 6 of DNA samples from Pv1.1-/Pv1.1+ individuals, we defined the mutation causing this polymorphism as a G----A single-base substitution at position 3931 of the active gene. By analyzing 54 unrelated Gaucher patients we show strong linkage...

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Identifiers

PMID: 1971142
PMCID: PMC1683587

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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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