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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |