Fig. 2From: Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase geneA novel HMBS gene nonsense mutation was identified. a. pedigree with HMBS gene mutation (The arrow indicated the proband); b. A novel HMBS gene mutation c.594G > A (W198*) was identified in the proband and her motherBack to article page