ESPE2014 Poster Category 3 Fat Metabolism & Obesity (2) (13 abstracts)
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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