Fig. 3From: Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case reportECHS1 Sanger sequence analysis and ECHS1 functional domain. a Sanger sequencing of genomic DNA of patient and his parents. b A schematic diagram of the functional domains in ECHS1 and the locations of the mutation and deletionBack to article page