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Absence of cell-surface EpCAM in congenital tufting enteropathy

Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we re...

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Autores principales: Schnell, Ulrike, Kuipers, Jeroen, Mueller, James L., Veenstra-Algra, Anneke, Sivagnanam, Mamata, Giepmans, Ben N.G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674798/
https://ncbi.nlm.nih.gov/pubmed/23462293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt105
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