Article
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Human mutation - 1 Sept 2010
Dutrannoy Véronique, Demuth Ilja, Baumann Ulrich, Schindler Detlev, Konrat Kateryna, Neitzel Heidemarie, Gillessen-Kaesbach Gabriele, Radszewski Janina, Rothe Susanne, Schellenberger Mario T, Nürnberg Gudrun, Nürnberg Peter, Teik Keng Wee, Nallusamy Revathy, Reis André, Sperling Karl, Digweed Martin, Varon Raymonda
Abstract excerpt
We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very recently, a new member of the NHEJ repair pathway, NHEJ1, was discovered, and mutations in patients with features...
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