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Article

A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.

Hepatology (Baltimore, Md.) - 1 Jul 2020

Overeem Arend W, Li Qinghong, Qiu Yi-Ling, Cartón-García Fernando, Leng Changsen, Klappe Karin, Dronkers Just, Hsiao Nai-Hua, Wang Jian-She, Arango Diego, van Ijzendoorn Sven C D

Abstract excerpt

BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) 6 has been associated with missense but not biallelic nonsense or frameshift mutations in MYO5B, encoding the motor protein myosin Vb (myoVb). This genotype-phenotype correlation and the mechanism through which MYO5B mutations give rise to PFIC are not understood. The aim of this study was to determine whether the loss of myoVb or...

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PMID: 31750554
DOI: 10.1002/hep.31002
PMCID: PMC7496772

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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