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https://www.um.edu.mt/library/oar/handle/123456789/108966| 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 Hill, Susan LaFerla, Godfrey Vassallo, Mario Scerri, Christian Grech, Godfrey Attard, Thomas M. |
| Keywords: | Intestines -- Diseases -- Malta -- Case studies Epithelial cell adhesion molecule Epithelial cells -- Genetic aspects Gene expression |
| Issue Date: | 2015 |
| Publisher: | Elsevier |
| Citation: | Gerada, J., Saliba, C., Galdies, R., Cassar, W., Mercieca, V., De Gaetano, J.,...Attard, T. M. (2015). Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy. Gastroenterology, AGA Abstracts, 250, 148(4), S-57. Digestive Disease Week 2015, Washington DC. |
| Abstract: | Introduction: 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 this condition in a cohort of patients in the Maltese Islands. EpCAM staining was negative in all patients in this cohort, suggesting a defective EPCAM gene in the milder phenotype as well. Aims: To identify the underlying genetic abnormality within the EPCAM gene responsible for the milder phenotype of CTE. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/108966 |
| Appears in Collections: | Scholarly Works - FacM&SPat |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy 2015.pdf Restricted Access | 172.63 kB | Adobe PDF | View/Open Request a copy |
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