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Article

Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.

American journal of medical genetics - 7 Jul 1998

Rockah R, Narinsky R, Frydman M, Cohen I J, Zaizov R, Weizman A, Frisch A

Abstract excerpt

Gaucher disease (GD), caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GBA), is the most common human glycolipid storage disease. The incidence of the disease is particularly high in the Ashkenazi Jewish population, with a carrier frequency of 0.068. The 1226A-->G and 84GG mutations are the two predominant disease-causing alleles. We investigated the association of various mutations in the GBA...

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Source

Identifiers

PMID: 9677056

Genes

PKLR

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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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