A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.

@article{Thoeni2014ANN,
  title={A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.},
  author={Cornelia E Thoeni and Achiya Zvi Amir and Conghui H. Guo and Sherry Zhang and Yaron Avitzur and Yee Meng Heng and Ernest Cutz and Aleixo M Muise},
  journal={Journal of pediatric gastroenterology and nutrition},
  year={2014},
  volume={58 1},
  pages={18-21}
}
OBJECTIVES Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the EpCAM gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of EpCAM in duodenal enterocytes. METHODS A patient… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS