Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene
✍ Scribed by Serap Emre; Figen Gürakan; Aysel Yüce; Arnold Rolf; Ronald Scott; Hasan Özen
- Book ID
- 116433088
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 130 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1769-7212
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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+2T→A) were identified by dir
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
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