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Table 1 GALC Mutations Identified in 33 Biochemically Confirmed Krabbe Disease Patients at Emory Genetics Laboratory

From: Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

Mutation Category # of Patients % of Patients
Two point mutations 16 16/33 = 48.5%
One point mutation and one 30-kb deletion 8 8/33 = 24.2%
Two 30-kb deletions 4 4/33 = 12.1%
One known mutation and one large deletion or duplication 3 3/33 = 9.1%
One known mutation and negative array CGH 2 2/33 = 6.1%