Article
Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
American journal of medical genetics. Part A - 15 Aug 2007
Alterman Neora, Fattal-Valevski Aviva, Moyal Lilach, Crawford Thomas O, Lederman Howard M, Ziv Yael, Shiloh Yosef
Abstract excerpt
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by progressive neurodegeneration, immunodeficiency, susceptibility to cancer, genomic instability, and sensitivity to ionizing radiation. A-T is caused by mutations that eliminate or inactivate the nuclear protein kinase ATM, the chief activator of the cellular response to double strand breaks (DSBs) in the DNA. Mild A-T is usually...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.