Fig. 2From: Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case reportIdentification of two mutations of the SLC26A3 gene. Direct sequencing revealed (a) a deletion of a T base (c.1295delT, p.Leu432Argfs*11) in exon 11 and (b) a duplication of TCA bases (c.2024_2026dupTCA, p.Ile675_Arg676insIle) in exon 18 of the gene. Both mutations were present in the affected patient in heterozygous stateBack to article page