Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T&g...

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Bibliografski detalji
Glavni autori: Dominguez-Valentin, Mev, Drost, Mark, Therkildsen, Christina, Rambech, Eva, Ehrencrona, Hans, Angleys, Maria, Lau Hansen, Thomas, de Wind, Niels, Nilbert, Mef, Juel Rasmussen, Lene
Format: Artigo
Jezik:Inglês
Izdano: BlackWell Publishing Ltd 2014
Teme:
Brief Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113276/
https://ncbi.nlm.nih.gov/pubmed/25077178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.80
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