Figure 1: Pedigree and mutation analysis of ABCB4 in family. Squares indicate male family members, and circles female family members. This is a two-generation family with 4 members. The parents are nonconsanguineous and healthy with a heterozygous variant in ABCB4, while the two siblings are suffering PFIC3 with a homozygous variant. The variant is a missense mutation, resulting in a proline- to- leucine substitution.