ATM mutations, haplotype analysis, and i
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Geoff W. Birrell; Katherine Kneebone; Michael Nefedov; Elena Nefedova; M.N. Jart
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Article
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2005
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John Wiley and Sons
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English
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Mutations in the ATM gene are responsible for the autosomal recessive disorder, ataxia telangiectasia (A-T). Mutations in different ethnic groups are distributed along the entire length of the large, 66 exon ATM gene. In this study, A-T patients from 16 Russian families were assessed for immunologic