Article
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Clinical and diagnostic laboratory immunology - 1 Jul 2001
García-Pérez M A, Allende L M, Corell A, Paz-Artal E, Varela P, López-Goyanes A, García-Martin F, Vázquez R, Sotoca A, Arnaiz-Villena A
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and "bird-like" facies. NBS shares some clinical features with ataxia telangiectasia (AT), including increased sensitivity to ionizing radiation, increased spontaneous and induced chromosome fragility, and strong predisposition to lymphoid cancers. The mutated gene that results in NBS codes for a novel...
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