Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

Figure 3 Direct sequencing analysis of the ABCB11 genes demonstrating (A) heterozygous C to T substitution in exon 8 predicting a missense mutation at amino acid position 226(p. S226L) (B) heterozygous G to A in exon 23 predicting a missense mutation at amino acid position 1003 (p.G1003R), and (C) heterozygous G to A in exon 19 predicting a missense mutation at amino acid position 776(p.G776R), (A) and (B) were detected in ABCB11 gene of patient 1 and (C) was detected in patient 2.