Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations

Author:

Alfonso Pilar,Cenarro Ana,Pérez-Calvo Juan Ignacio,Giralt Manuel,Giraldo Pilar,Pocovı́ Miguel

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference39 articles.

1. Demonstration of a deficiency of glucocerebrosidase-cleaving enzyme in Gaucher's disease;Brady;J. Clin. Invest.,1966

2. Gaucher disease;Beutler,1995

3. Assignment of the gene coding for human β-glucocerebrosidase to the region q21–q31 of chromosome 1 using monoclonal antibodies;Barnevejaard;Hum. Genet.,1983

4. The human glucocerebrosidase gene and pseudogene: Structure and evolution;Horowitz;Genomics,1998

5. Gaucher's disease: Molecular, genetic and enzymological aspects;Grabowski,1997

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