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[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].

Biomeditsinskaia khimiia - 1 Jan 2000

Bukina T M, Tsvetkova I V

Abstract excerpt

Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid beta-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic anal...

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PMID: 18078074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18078074-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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