Article
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.
Journal of gastroenterology and hepatology - 1 Sept 2008
Chen Szu-Ta, Chen Huey-Ling, Su Yi-Ning, Liu Yu-Jung, Ni Yen-Hsuan, Hsu Hong-Yuan, Chu Chia-Shiang, Wang Nai-Yu, Chang Mei-Hwei
Abstract excerpt
BACKGROUND AND AIM: Progressive familial intrahepatic cholestasis type 2 (PFIC2) results from genetic defects of the hepatobiliary bile salt export pump (BSEP, ABCB11) at chromosome 2q24. Patients with progressive cholestasis and liver cirrhosis usually need liver transplantation in the first decade. Mutations in ABCB11 are also associated with benign recurrent intrahepatic cholestasis type 2 and intrahepatic...
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