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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Mutation Updates
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328345/
https://www.ncbi.nlm.nih.gov/pubmed/30461124
http://dx.doi.org/10.1002/humu.23688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328345/
https://www.ncbi.nlm.nih.gov/pubmed/30461124
http://dx.doi.org/10.1002/humu.23688

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