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https://www.um.edu.mt/library/oar/handle/123456789/25225| Title: | Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy |
| Authors: | Gerada, Jurgen Saliba, Christian Galdies, Ruth Cassar, Wilhelmina Mercieca, Victor DeGaetano, James Gerada, Eleanor Sebire, Neil J. Hill, Susan Vassallo, Mario Scerri, Christian A. Grech, Godfrey Attard, Thomas |
| Keywords: | Epithelial cells Intestines -- Diseases -- Malta |
| Issue Date: | 2014 |
| Publisher: | Sage |
| Citation: | Gerada, J., Saliba, C., Galdies, R., Cassar, W., Mercieca, V., De Gaetano, J.,...Attard, T. M. (2014). Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy. United European Gastroenterology Journal 2 (1S), OP354, A112. |
| Abstract: | A number of point mutations within the EPCAM gene have been found to be responsible for congenital tufting enteropathy (CTE). We previously described a milder phenotype of CTE in a cohort of Maltese patients1. EpCAM staining was negative in the whole cohort1, suggesting a defective EPCAM gene in the milder phenotype. |
| URI: | https://www.um.edu.mt/library/oar//handle/123456789/25225 |
| Appears in Collections: | Scholarly Works - FacM&SPat |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy.pdf Restricted Access | 109.58 kB | Adobe PDF | View/Open Request a copy |
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