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- [3] GAUCHER DISEASE TYPE-1 - CLONING AND CHARACTERIZATION OF A CDNA-ENCODING ACID BETA-GLUCOSIDASE FROM AN ASHKENAZI JEWISH PATIENT DNA-A JOURNAL OF MOLECULAR & CELLULAR BIOLOGY, 1988, 7 (08): : 521 - 528
- [5] Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 68 (02): : 211 - 215
- [7] ANALYSES OF CATALYTIC ACTIVITY AND INHIBITOR BINDING OF HUMAN ACID BETA-GLUCOSIDASE BY SITE-DIRECTED MUTAGENESIS - IDENTIFICATION OF RESIDUES CRITICAL TO CATALYSIS AND EVIDENCE FOR CAUSALITY OF 2 ASHKENAZI JEWISH GAUCHER DISEASE TYPE-1 MUTATIONS JOURNAL OF BIOLOGICAL CHEMISTRY, 1990, 265 (12) : 6827 - 6835
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