Fig. 3From: An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosisDirect sequencing results of cDNA after PCR. The control leukocyte sample shows only one normal band (a), the sample extracted from lymphocyte culture of the patient (b) shows two bands, one the same size as the control sample and the other including a 104 bp insertion sequenceBack to article page