Article
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
American journal of medical genetics - 29 May 2000
Li A, Swift M
Abstract excerpt
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 entire coding region (66 exons) and splice junctions detected 77 mutations (85%) in 90 A-T chromosomes. Heteroduplex...
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