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Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/108966
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dc.contributor.authorGerada, Jurgen-
dc.contributor.authorSaliba, Christian-
dc.contributor.authorGaldies, Ruth-
dc.contributor.authorCassar, Wilhelmina-
dc.contributor.authorMercieca, Victor-
dc.contributor.authorDeGaetano, James-
dc.contributor.authorGerada, Eleanor-
dc.contributor.authorSebire, Neil-
dc.contributor.authorHill, Susan-
dc.contributor.authorLaFerla, Godfrey-
dc.contributor.authorVassallo, Mario-
dc.contributor.authorScerri, Christian-
dc.contributor.authorGrech, Godfrey-
dc.contributor.authorAttard, Thomas M.-
dc.date.accessioned2023-04-26T10:21:58Z-
dc.date.available2023-04-26T10:21:58Z-
dc.date.issued2015-
dc.identifier.citationGerada, 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.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar/handle/123456789/108966-
dc.description.abstractIntroduction: 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.en_GB
dc.language.isoenen_GB
dc.publisherElsevieren_GB
dc.rightsinfo:eu-repo/semantics/restrictedAccessen_GB
dc.subjectIntestines -- Diseases -- Malta -- Case studiesen_GB
dc.subjectEpithelial cell adhesion moleculeen_GB
dc.subjectEpithelial cells -- Genetic aspectsen_GB
dc.subjectGene expressionen_GB
dc.titleLarge deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathyen_GB
dc.typeconferenceObjecten_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.bibliographicCitation.conferencenameDigestive Disease Week (DDW) 2015en_GB
dc.bibliographicCitation.conferenceplaceWashington, D.C., United Sea. 17-19/05/2015.en_GB
dc.description.reviewedpeer-revieweden_GB
dc.identifier.doi10.1016/S0016-5085(15)30195-5-
dc.publication.titleGastroenterologyen_GB
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