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Article

A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology - 1 Feb 2022

Selim Nora, Omair Heba, El-Karaksy Hanaa, Fathy Marianne, Mahmoud Enas, Baroudy Sherif, Fathy Mona, Yassin Noha

Abstract excerpt

BACKGROUND AND STUDY AIMS: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare inherited disorder caused by mutation in the ATP-binding cassette subfamily B member 11 gene (ABCB11) that encodes the bile salt export pump (BSEP), which is the main transporter of bile acids from hepatocytes to the canalicular lumen. Defects in BSEP synthesis and/or function lead to reduced bile salt secretion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35153175
DOI: 10.1016/j.ajg.2021.11.003

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