Please use this identifier to cite or link to this item: 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
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, J., 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

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