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Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome

Lynch syndrome (LS) is caused by germline defects in DNA mismatch repair (MMR) pathway, resulting in microsatellite instability (MSI-H) and loss of immunohistochemical staining (IHC) of the respective protein in tumor tissue. However, not in all clinically suspected LS patients with MSI-H tumors and...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Arnold, Anke Marie, Morak, Monika, Benet-Pagès, Anna, Laner, Andreas, Frishman, Dimitrij, Holinski-Feder, Elke
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7170855/
https://ncbi.nlm.nih.gov/pubmed/31822864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0536-9
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