EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane‐bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), wh...

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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Mutation Updates
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6328345/
https://ncbi.nlm.nih.gov/pubmed/30461124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23688
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