Article
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.
Human mutation - 1 Feb 2005
Coutinho Gabriela, Xie Jiuyong, Du Liutao, Brusco Alfredo, Krainer Adrian R, Gatti Richard A
Abstract excerpt
Screening for ATM mutations is usually performed using genomic DNA as a template for PCR amplification across exonic regions, with the consequence that deep intronic sequences are not analyzed. Here we report a novel pseudoexon-retaining deep intronic mutation (IVS28-159A>G; g.75117A>G based on GenBank U82828.1) in a patient with ataxia-telangiectasia (A-T), as well as the identification of a previously...
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