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...

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Detalles Bibliográficos
Autores principales: Orlando, Luisa J, Yim, Matthew K, Hallmark, Thomson, Cotner, Michael, Johnson, Sean J, van Hoof, Ambro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Caltech Library 2022
Materias:
New Finding
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

Internet

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

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