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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Detalles Bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado: BlackWell Publishing Ltd 2014
Assuntos:
Brief Report
Acceso en liña: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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