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 were identified.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology