3.2.1.46	-	683453	
3.2.1.46	a specific neurologically relevant murine cell-line (145M-Twi) is modified to express common human hGALC-G270D mutant	751372	
3.2.1.46	expression in CHO cells	171522	
3.2.1.46	expression in lentiviral GALC vectors	697390	
3.2.1.46	expression vectors for different fusion-proteins are constructed: GALC, unmodified enzyme, GALC-MH: fusion protein containing a C-terminal myc-tag and six His residues, GALC-TMH: fusion protein containing in addition a Tat-PTD, the protein transduction domain derived from the HIV-1 Tat protein	683796	
3.2.1.46	exression in lentiviral GALC vectors	697390	
3.2.1.46	mutation in Krabbe disease	171521	
3.2.1.46	Newborn screening for Krabbe's disease, several variants in confirmed patients are identified. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells	751371	
3.2.1.46	nonsense mutation in Krabbe disease	171520