Article
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Gastroenterology - 1 Jul 2021
Pham Duc-Hung, Kudira Ramesh, Xu Lingfen, Valencia C Alexander, Ellis Jillian L, Shi Tiffany, Evason Kimberley J, Osuji Immaculeta, Matuschek Nelson, Pfuhler Liva, Mullen Mary, Mohanty Sujit K, Husami Ammar, Bull Laura N, Zhang Kejian, Wali Sami, Yin Chunyue, Miethke Alexander
Abstract excerpt
BACKGROUND & AIMS: The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. METHOD: Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum...
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