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Genetic and clinical features of patients with Gaucher disease in Hungary.

Blood cells, molecules & diseases - 1 Jan 2000

Erdos Melinda, Hodanova Katerina, Taskó Szilvia, Palicz Anita, Stolnaja Larisa, Dvorakova Lenka, Hrebicek Martin, Maródi László

Abstract excerpt

The aim of this study was to identify mutations in the gene encoding for lysosomal beta-glucocerebrosidase (GBA; gene symbol, GBA) in Hungarian patients with Gaucher disease (GD), and to study genotype-phenotype relationships. Genotypes and allele variations in 27 patients with type I GD of 25 unrelated families were studied. Of the 54 mutant alleles, we detected 38 frequent (N370S, 22/54; RecNciI, 8/54; L444P,...

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PMID: 17395504
DOI: 10.1016/j.bcmd.2007.02.005

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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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