Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Figure 1 Genomic DNA sequences in exon 8 of the AKR1D1 gene in the patient and his family. A: Compound heterozygote in the patient (c.919C > T, R307C); B: No variant in his father; C: Heterozygote in his mother; D: Heterozygote in his brother; E: Loss of heterozygosity in exons 1-9 of AKR1D1 in the patient. AKR1D1: Aldo-ketoreductase family 1 member D1.