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Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction

ABSTRACT: Congenital tufting enteropathy (CTE) is a devastating diarrheal disease seen in infancy that is typically associated with villous changes and the appearance of epithelial tufts. We previously found mutations in epithelial cell adhesion molecule (EpCAM) to be causative in CTE. We developed...

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Detalles Bibliográficos
Autores principales: Kozan, Philip A., McGeough, Matthew D., Peña, Carla A., Mueller, James L., Barrett, Kim E., Marchelletta, Ronald R., Sivagnanam, Mamata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408367/
https://www.ncbi.nlm.nih.gov/pubmed/25482158
http://dx.doi.org/10.1007/s00109-014-1239-x