Fig. 2From: Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentationElectropherograms of NGLY1 exon 8 for the proband and her family. Patient The proband carries compound heterozygous mutations (c.1168C > T [p.R390*] and c.1156G > T [p.D386Y]). Father Her father carries c.1156G > T. Mother Her mother carries c.1168C > TBack to article page