Article
Radiation-induced delayed cell death in a hypomorphic Artemis cell line.
Human molecular genetics - 15 Apr 2006
Evans Paul M, Woodbine Lisa, Riballo Enriquetta, Gennery Andrew R, Hubank Michael, Jeggo Penny A
Abstract excerpt
Null mutations in Artemis confer a condition described as RS-SCID, in which patients display radiosensitivity combined with severe combined immunodeficiency. Here, we characterize the defect in Artemis in a patient who displayed progressive combined immunodeficiency (CID) and elevated lymphocyte apoptosis. The patient is a compound heterozygote with novel mutations in both alleles, resulting in Artemis proteins...
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