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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Hlavní autoři: Sivagnanam, Mamata, Mueller, James L., Szigeti, Reka, Gopalakrishna, G. S., Kellermayer, Richard
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2012
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3444051/
https://ncbi.nlm.nih.gov/pubmed/22991516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/173195
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