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The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: Linkage to the PvuII polymorphism

✍ Scribed by L. Lacerda; O. Amaral; R. Pinto; J. Aerts; M. C. Sá Miranda


Book ID
104917638
Publisher
Springer
Year
1994
Tongue
English
Weight
247 KB
Volume
17
Category
Article
ISSN
0141-8955

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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