Phenotype details |
The patient were recruited from the China Registry for Genetics/Metabolic Liver Disease. The patient underwent a standard biochemical and liver histopathology examination (Jirsa et al., 1993), and displayed conjugated hyperbilirubinemia (total bilirubin (TBil) 101 μmol/L, direct bilirubin (DBil) 96 μmol/L). The livers were histologically normal. |