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1FC3.3 The amounts of ATM protein and residual kinase activity predict the phenotype in Ataxia-Telangiectasia: A genotype – phenotype study

✍ Scribed by M. Verhagen

Book ID
114360298
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
36 KB
Volume
15
Category
Article
ISSN
1090-3798

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Presence of ATM protein and residual kin
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study
✍ Mijke M. M. Verhagen; James I. Last; Frans B. L. Hogervorst; Dominique F. C. M. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB

## Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clinical and laboratory data of 51 genetically prov