ESPE Abstracts (2014) 82 P-D-3-3-797

Gene Mutation and Clinical Characteristics Analysis in Progressive Familial Intrahepatic Cholestasis

Ruizhu Lin, Li Liu & Huiying Sheng


Guangzhou Women And Children’s Medical Center, Guangzhou, China


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.

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