Associated Papers
Challenges in Gaucher disease: Perspectives from an expert panel.
Grabowski GA et al.
Molecular Genetics and Metabolism, 2025
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences.
Sinclair G et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M et al.
Human Mutation, 2004
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
Choy FY et al.
American Journal of Medical Genetics, 1997
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Choy FY et al.
Journal of Medical Genetics, 1997
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Choy FY et al.
American Journal of Medical Genetics, 1996
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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