Article
The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle.
DNA repair - 1 Jul 2008
Biton Sharon, Barzilai Ari, Shiloh Yosef
Abstract excerpt
Human genomic instability syndromes affect the nervous system to different degrees of severity, attesting to the vulnerability of the CNS to perturbations of genomic integrity and the DNA damage response (DDR). Ataxia-telangiectasia (A-T) is a typical genomic instability syndrome whose major characteristic is progressive neuronal degeneration but is also associated with immunodeficiency, cancer predisposition and...
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