Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

Por Drost, Mark, Koppejan, Hester, de Wind, Niels
Publicado em 2013

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

Por Drost, Mark, Lützen, Anne, van Hees, Sandrine, Ferreira, Daniel, Calléja, Fabienne, Zonneveld, José B. M., Nielsen, Finn Cilius, Rasmussen, Lene Juel, de Wind, Niels
Publicado em 2013

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

Por Dominguez-Valentin, Mev, Drost, Mark, Therkildsen, Christina, Rambech, Eva, Ehrencrona, Hans, Angleys, Maria, Lau Hansen, Thomas, de Wind, Niels, Nilbert, Mef, Juel Rasmussen, Lene
Publicado em 2014

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: use of potential alternative start sites and implicat...

Por Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Niels, Thompson, Bryony A., Marquart, Louise, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, Warwick, Linda, Buchanan, Daniel D., Spurdle, Amanda B.
Publicado em 2013