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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...
Gardado en:
| Publicado en: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer International Publishing
2019
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| Assuntos: | |
| Acceso en liña: | 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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