Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

Autor: Van Weely, Sonja, Van Leeuwen, Marinella B., Jansen, Ineke D.C., De Bruijn, Marianne A.C., Brouwer-Kelder, Elisabeth M., Schram, AndréW., Sa Miranda, M.Clara, Barranger, John A., Petersen, Evelyn M., Goldblatt, Jack, Stotz, Harald, Schwarzmann, Günther, Sandhoff, Konrad, Svennerholm, Lars, Erikson, Anders, Tager, Joseph M., Aerts, Johannes M.F.G.
Zdroj: In BBA - Molecular Basis of Disease 1991 1096(4):301-311
Databáze: ScienceDirect