## Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality. PCR amplification from genomic DNA and automated sequencing of the enti
β¦ LIBER β¦
The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle
β Scribed by Sharon Biton; Ari Barzilai; Yosef Shiloh
- Book ID
- 113567968
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 326 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1568-7864
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## 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
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