Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the glucocerebrosidase gene (GBA). In this paper we report the molecular characterization of 144 unrelated Italian GD patients with t
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
β Scribed by H. Michelakakis; E. Dimitriou; S. Van Weely; R. G. Boot; I. Mavridou; M. Verhoek; J. M. F. G. Aerts
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 395 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2TβA) were identified by dir
Communicated by Peter H. Byers Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewis
To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10 and 11 of the glucocerebrosidase gene; these exon