Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia‐telangiectasia (A‐T). Many different mutations have been identified using various techniques, with detection efficiencies ranging from 57 to 85%. In this study, we employed short tandem repeat (STR) haplotypes to e...

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