Article
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
Human mutation - 1 Apr 2003
Saviozzi Silvia, Saluto Alessandro, Piane Maria, Prudente Sabrina, Migone Nicola, DeMarchi Mario, Brusco Alfredo, Chessa Luciana
Abstract excerpt
Mutations in the ATM gene are responsible for the autosomal recessive syndrome Ataxia Telangiectasia (AT). In a group of 26 classical AT Italian patients studied by protein truncation test (PTT), we identified six new mutations, never reported so far. Mutations -spread over the entire ATM coding sequence with not clear "hot-spot"- are four frameshifts (2192_2193insA, 3110delC, 7150delA, 8368delA), one splice site...
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