Cancer Weekly
Welcome to NewsRx!
Learn more about a six-week, no-risk free trial of Cancer Weekly
We're a pay-per-view site for premium content. If you'd like to purchase this article, it's only $3.00.
Ataxia Telangiectasia
Scientists at University of California, Medical Department report research in ataxia telangiectasia
April 7th, 2009
"The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis," investigators in the United States report. "To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T), we employed site-directed mutagenesis of ataxia-telangiectasia mutated (ATM) cDNA followed by stable transfections into a single A-T cell line to isolate the effects of each allele on the cellular phenotype. After induction of the transfected cells with CdCl2, we monitored for successful ATM transcription and subsequently...
Source: Cancer Weekly (2009-04-07)
|
