Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation

Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder where epithelial tufts can be present from the duodenum to the large intestine. CTE has been linked to mutations in the epithelial cell adhesion molecule gene (EpCAM) Sivagnanam et al. (2008). We recently reported...

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Detalles Bibliográficos
Autores principales: Sivagnanam, Mamata, Mueller, James L., Szigeti, Reka, Gopalakrishna, G. S., Kellermayer, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444051/
https://www.ncbi.nlm.nih.gov/pubmed/22991516
http://dx.doi.org/10.1155/2012/173195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444051/
https://www.ncbi.nlm.nih.gov/pubmed/22991516
http://dx.doi.org/10.1155/2012/173195

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