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% |