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A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.
The intestinal and immune disorder trichohepatoenteric syndrome (THES) is characterized by mutations in human Ski2 and Ski3, also known as SKIV2L and TTC37, respectively. The mechanism by which these mutations leads to the immunodeficiency, chronic diarrhea, failure to thrive and liver disease assoc...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Caltech Library
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123431/ https://www.ncbi.nlm.nih.gov/pubmed/35607352 http://dx.doi.org/10.17912/micropub.biology.000575 |