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Article

Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.

American journal of medical genetics - 1 Aug 1990

Kolodny E H, Firon N, Eyal N, Horowitz M

Abstract excerpt

Seven members of an Ashkenazi Jewish family with Gaucher disease in 3 successive generations were tested for the presence of the 2 common mutations known to occur in the glucocerebrosidase gene. Genomic DNA from blood or skin fibroblasts of relatives was amplified by using the PCR technique and individual mutations identified by oligonucleotides specific to the mutated sequences. Four individuals were homozygous...

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Identifiers

PMID: 2117855
DOI: 10.1002/ajmg.1320360419

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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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