Fig. 1 | Journal of Human Genetics

Fig. 1

From: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Fig. 1

Mutation detection for 12Del3Ins and I66M+I289V with restriction enzyme digestion. a Genomic DNA samples were amplified with the primer pair of exon 7; the product was digested with HinfI and subjected to 3% Nusieve gel. Fragments with 12Del3Ins were not digested with HinfI. b For detection of I66M, amplified fragments using a sense primer of exon 2 and a mismatch-antisense primer (5′-TCATTACCTTAAAGAGATAATCCGA-3′) were digested with EcoRV. c To detect I289V, amplified fragments with a sense primer of exon 9 and a mismatch-antisense primer (5′-ACTAGCCACTAAATTCCAGTCGA-3′) were digested with SalI

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