The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1–14% of all Lynch Syndrome cancers. Correct variant analysis of PMS2 is complex due to the presence of multiple pseudogenes and the occurrence of gene conversion. The analysis complexity increases in highly fragmented DNA from forma...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Jansen, Anne M. L., Tops, Carli M. J., Ruano, Dina, van Eijk, Ronald, Wijnen, Juul T., ten Broeke, Sanne, Nielsen, Maartje, Hes, Frederik J., van Wezel, Tom, Morreau, Hans
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7028990/
https://ncbi.nlm.nih.gov/pubmed/31616036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0527-x
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