Figure 1. SLC10A1 gene analysis in the two families affected by NTCP deficiency.

(A) Patient 1 was a compound heterozygote of mutation c.800C>T (p.S267F) and c.263T>C (p.I88T). Her father was a carrier of c.800C>T, while the mother, of c.263T>C. (B) Patient 2 was a compound heterozygote of mutation c.800C>T (p.S267F) and c.263T>C (p.I88T), too. His father was a carrier of c.263T>C, while the mother, of c.800C>T.