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This study, conducted by Eng et al. and published in Human Mutation (2004), investigates the mutations in the ATM gene, which are linked to Ataxia-telangiectasia, a severe neurodegenerative disorder. The research utilizes Supplementary Table 1 to detail various specific mutations, their locations within the gene, and associated phenotypic outcomes. It aims to enhance understanding of ATM's role in DNA repair mechanisms and its implications for genetic counseling and potential therapeutic strategies.
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Supplementary Table1. ATM mutations * Eng et al. Human Mutation 23: 67, 2004.