Associated Papers
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
Overeem AW et al.
Hepatology (baltimore, Md.), 2020
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
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