Article
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.
Mutation research - 14 May 1999
Kraakman-van der Zwet M, Overkamp W J, Friedl A A, Klein B, Verhaegh G W, Jaspers N G, Midro A T, Eckardt-Schupp F, Lohman P H, Zdzienicka M Z
Abstract excerpt
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency and a high incidence of malignancies. Cells from NBS patients are hypersensitive to ionizing radiation (IR) and display radioresistant DNA synthesis (RDS). NBS is caused by mutations in the NBS1 gene on chromosome 8q21 encoding a protein called...
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