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Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

BACKGROUND: Germline mutations affecting the exonuclease domains of POLE and POLD1 predispose to colorectal adenomas and carcinoma. Here, we aimed to screen the exonuclease domains to find the genetic causes of multiple colorectal polyps in unexplained cases. METHODS: Using a custom next‐generation...

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Detalles Bibliográficos
Autores principales: Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Ruano, Dina, Vasen, Hans F. A., Morreau, Hans, J. Hes, Frederik, van Wezel, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465667/
https://www.ncbi.nlm.nih.gov/pubmed/30827058
http://dx.doi.org/10.1002/mgg3.603

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