Ataxia-telangiectasia without immunodeficiency: Novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain

Abstract excerpt

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, telangiectasia, sinopulmonary infections, hypersensitivity to ionizing radiation, and combined immunodeficiency. Recently, the AT gene (ATM) was cloned and shown to be mutated in AT patients. In this report, mutation analysis of ATM was performed in a 24-year-old AT patient without immunodeficiency. ATM amplified...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Carcinogens and Genotoxicity Assessment
• Share to DNA Repair Mechanisms
• Share to Polyomavirus and related diseases