Fig. 5 | Scientific Reports

Fig. 5

From: Genetic and clinical characteristics of Japanese cystinuria with exon and exon–intron boundary variants

Fig. 5

The case with homozygote exon–intron boundary variant. The CT image of the patient with left staghorn calculus (A). The case possessed c.1224 + 3A > C homozygote variant in SLC7A9, which was located 3 bases into the intron from the exon-intron boundary (B). 24 h urine amino acids of the patient (C). mRNA expression of the SCL3A1 and SLC7A9 genes based on the RNA sequence (D). FPKM represent RNA expression based on the number of fragments per kilobase of exon per million reads mapped. Based on the genotype cover exon and exon-intron boundary, the cases that do not fit into the autosomal recessive inheritance category reduced to 9 cases from 14 cases (E).

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