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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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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Ruano, Dina, Vasen, Hans F. A., Morreau, Hans, J. Hes, Frederik, van Wezel, Tom
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465667/
https://ncbi.nlm.nih.gov/pubmed/30827058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.603
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