Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.

doi:10.1093/ajcp/93.6.788

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Article

Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.

American journal of clinical pathology - 1 Jun 1990

Zimran A, Kuhl W C, Beutler E

Abstract excerpt

The authors applied the polymerase chain reaction- (PCR) based color complementation assay for rapid detection of the 1226 ("Jewish") mutation of the glucocerebrosidase gene. Fifty-seven unrelated patients with Gaucher's disease and 50 unrelated normal Ashkenazi Jewish volunteers were studied. Th...

Topics

Adolescent
Adult
Aged
Alleles
Child
Child, Preschool
Gaucher Disease
Gene Amplification
Genes, Recessive
Glucosylceramidase
Humans
Infant
Jews
Middle Aged
Mutation
Polymerase Chain Reaction
Reference Values

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