Article
Biliary transporter gene mutations in severe intrahepatic cholestasis of pregnancy: Diagnostic and management implications.
Journal of gastroenterology and hepatology - 1 Feb 2019
Yeap Sze Pheh, Harley Hugh, Thompson Richard, Williamson Kate Diana, Bate John, Sethna Farah, Farrell Geoffrey, Hague William Bill
Abstract excerpt
BACKGROUND AND AIMS: Clinical syndromes associated with biallelic mutations of bile acid (BA) transporters usually present in childhood. Subtle mutations may underlie intrahepatic cholestasis of pregnancy (ICP) and oral contraceptive steroid (OCS) induced cholestasis. In five women with identified genetic mutations of such transporters, with eight observed pregnancies complicated by ICP, we examined relationships...
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