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|Title:||Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy|
Sebire, Neil J.
Intestines -- Diseases -- Malta
|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.|
|Appears in Collections:||Scholarly Works - FacM&SPat|
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