A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, a...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Genes (Basel)
Huvudupphovsmän: Klančar, Gašper, Blatnik, Ana, Šetrajčič Dragoš, Vita, Vogrič, Vesna, Stegel, Vida, Blatnik, Olga, Drev, Primož, Gazič, Barbara, Krajc, Mateja, Novaković, Srdjan
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2020
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140785/
https://ncbi.nlm.nih.gov/pubmed/32197529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030325
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk