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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Mutation Updates
Acesso em linha: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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