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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Bibliografische gegevens
Hoofdauteurs: Dominguez-Valentin, Mev, Drost, Mark, Therkildsen, Christina, Rambech, Eva, Ehrencrona, Hans, Angleys, Maria, Lau Hansen, Thomas, de Wind, Niels, Nilbert, Mef, Juel Rasmussen, Lene
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BlackWell Publishing Ltd 2014
Onderwerpen:
Brief Report
Online toegang: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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