hrp0082p3-d3-797 | Fat Metabolism & Obesity (2) | ESPE2014

Gene Mutation and Clinical Characteristics Analysis in Progressive Familial Intrahepatic Cholestasis

Lin Ruizhu , Liu Li , Sheng Huiying

Background: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive diseases.Objective and hypotheses: To explore the characterization of ATP8B1, ABCB11 and ABCB4 gene mutational spectrum in children from South China.Method: By using PCR combined with direct DNA sequencing for 32 patients.Results: Six patients were diagnosed as PFIC.Conclusion: Six novel mutations...