Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

PURPOSE: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. METHODS: Exome sequencing was conducted on 40 unexplained (mai...

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Bibliografski detalji
Izdano u:Genet Med
Glavni autori: Olkinuora, Alisa, Nieminen, Taina T., Mårtensson, Emma, Rohlin, Anna, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Gebre-Medhin, Samuel, Nordling, Margareta, Peltomäki, Päivi
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group US 2018
Teme:
Brief Communication
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752675/
https://ncbi.nlm.nih.gov/pubmed/30573798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0405-x
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