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Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives

✍ Scribed by Kathleen Claes, Julie Depuydt, A. Malcolm R. Taylor…


Book ID
120897997
Publisher
Humana Press Inc
Year
2013
Tongue
English
Weight
628 KB
Volume
15
Category
Article
ISSN
1535-1084

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## 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