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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2014
Fag:
Brief Report
Online adgang: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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