Article
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
DNA repair - 3 Feb 2006
Macris Margaret A, Krejci Lumir, Bussen Wendy, Shimamoto Akira, Sung Patrick
Abstract excerpt
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by growth deficiency, skin and skeletal abnormalities, and a predisposition to cancer. Mutations in the RECQ4 gene, one of five human homologs of the E. coli recQ gene, have been identified in a subset of RTS patients. Cells derived from RTS patients show high levels of chromosomal instability, implicating this protein in the...
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