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

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.

Article tools

My recent searches

No recent searches.