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Iwanaga, J, He, P, Watanabe, K, Kamura, Y, Oskouian, RJ, and Tubbs, RS (2017)

Nat Immunol 18(5):488498

Published online December 29, 2008 (DOI: 10.1371/journal.pone.0004031) [DOI] [PMC free article] [PubMed] [Google Scholar] Filosa S, Calabro V, Lania G, Vulliamy TJ, Brancati C, Tagarelli A, Luzzatto L, et al

the NR1H4 variants cause loss of BSEP expression, leading to the accumulation of toxic bile and hepatocellular damage, with rapidly progressive intralobular cholestasis in the neonatal period [1, 42, 48, 49]