A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy

BACKGROUND & AIMS: UNC45A is a myosin (co-)chaperone, and mutations in the UNC45A gene were recently identified in osteo-oto-hepato-enteric (O2HE) syndrome patients presenting with congenital diarrhea and intrahepatic cholestasis. Congenital diarrhea and intrahepatic cholestasis are also the pri...

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Detalles Bibliográficos
Autores principales: Li, Qinghong, Zhou, Zhe, Sun, Yue, Sun, Chang, Klappe, Karin, van IJzendoorn, Sven C.D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218578/
https://www.ncbi.nlm.nih.gov/pubmed/35421597
http://dx.doi.org/10.1016/j.jcmgh.2022.04.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218578/
https://www.ncbi.nlm.nih.gov/pubmed/35421597
http://dx.doi.org/10.1016/j.jcmgh.2022.04.006

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