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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113276/
https://www.ncbi.nlm.nih.gov/pubmed/25077178
http://dx.doi.org/10.1002/mgg3.80

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113276/
https://www.ncbi.nlm.nih.gov/pubmed/25077178
http://dx.doi.org/10.1002/mgg3.80

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