Article
Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012
Karaca Emin, Kalkan Sema, Onay Huseyin, Aykut Ayca, Coker Mahmut, Ozkinay Ferda
Abstract excerpt
Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme β-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD...
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