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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496772/
https://www.ncbi.nlm.nih.gov/pubmed/31750554
http://dx.doi.org/10.1002/hep.31002

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