Article
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Human mutation - 1 Jan 1999
Castellví-Bel S, Sheikhavandi S, Telatar M, Tai L Q, Hwang M, Wang Z, Yang Z, Cheng R, Gatti R A
Abstract excerpt
The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA. ATM mutations are found along the entire gene, with no evidence of a mutational hot spot. Using DNA as the starting material, we screened the ATM gene in 92 A-T patients, using an optimized single-strand conformation polymorphism (SSCP) technique that detected all previously known mutations in the polymerase chain reaction (PCR) segments...
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