In vitro and in silico characterization of a novel NR1H4/FXR mutation causing Progressive Familial Intrahepatic Cholestasis Type 5

¹ Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany

² Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany

³ Department of Human Genetics, Hannover Medical School, Hannover, Germany; Department for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany

¹ Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany

⁴ Department for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany

⁴ Department for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany

² Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University, Düsseldorf, Germany

¹ Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany

⁵ Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany