Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis
Hepatology Research2015Vol. 46(4), pp. 306–311
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Monique Goldschmidt, Reena Mourya, Jessica Connor, Phillip J. Dexheimer, Rebekah Karns, Alexander Miethke, Rachel Sheridan, Kejian Zhang, Jorge A. Bezerra
Abstract
Children with idiopathic intrahepatic cholestasis have a higher frequency of double or triple NSV in SERPINA1, JAG1, ATPB1, ABCB11 or ABCB4. These findings raise the potential role for gene-gene relationships in determining the phenotype of cholestatic liver disease in children.
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