Profiles of bile salt export pump (BSEP) immunostaining and gene analysis
| Case no. | PFIC type | BSEP immunostaining | Gene | Mutation | Mutation type |
|---|---|---|---|---|---|
| 1 | 2 | Total loss | Absent | None | |
| 2 | 2 | Total loss | Absent | None | |
| 3 | 1 | Intact | c.1753G > T (p.Glu585*) (p.E585*) | Nonsense, homozygous | |
| 4 | 2 | Focal loss | Absent | None | |
| 5 | 2 | Focal loss | c.1416T > A (p.Tyr472*) (p.Y472*) | Nonsense, homozygous | |
| 6 | 1 | Intact | Absent | None | |
| 7 | 2 | Total loss | NA | NA | NA |
PFIC, progressive familial intrahepatic cholestasis; NA, not available.