Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Figure 1 Liver, second biopsy (10 mo). Hepatocellular swelling and multinucleation, with intralobular cholestasis (A), accompanying mild portal-tract lymphocytic infiltration and fibrosis (B). On immunostaining, bile salt export pump (BSEP) expression was not detected (C); canaliculi in control liver stained normally for BSEP (D). [Hematoxylin/eosin, A and B; rabbit anti-BSEP polyclonal antibody (generous gift of Dr B Stieger)/hematoxylin, C and D; original magnification, all images, × 200].

Figure 2 Mutations c. 90_93delGAAA and c.249_250insT detected in exon 3 and 5 of ABCB11. FW: Forward reading (coding strand sequence); RC: Reversed and complemented reading (reversed and complemented sequence of the complementary strand).