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
✦ LIBER ✦
Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles
✍ Scribed by Kateřina Hodaňová; Martin Hřebı́ček; Markéta Červenková; Lenka Mrázová; Lenka Vepřeková; Jiřı́ Zeman
- Book ID
- 115589995
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 84 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1079-9796
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