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A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators

4 Feb 2021

Abstract excerpt

Intrahepatic cholestasis is characterized by the accumulation of compounds in the serum that are normally secreted by hepatocytes into the bile. Genes associated with familial intrahepatic cholestasis (FIC) include ATP8B1 (FIC1), ABCB11 (FIC2), ABCB4 (FIC3), TJP2 (FIC4), NR1H4 (FIC5) and MYO5B (FIC6). With advanced genome sequencing methodologies, additional mutated genes are rapidly identified in patients...

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PMID: 33557414
DOI: 10.3390/biology10020119

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