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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain
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  • Published on:
    Pitfalls of comparative sequence analysis as a single platform for routine clinical testing for NF1
    • Ludwine M. Messiaen, Professor in genetics
    • Other Contributors:
      • Ludwine Messiaen and Katharina Wimmer

    Dear Editor

    Mattocks et al [1] have used direct DNA sequencing and comparative sequence analysis to study NF1 patients and claim this study “achieved the highest recorded mutation detection rate using a single technique for this gene”. As a key point, the paper states that they studied 91 subjects fulfilling the NIH NF1 diagnostic criteria and achieved a mutation detection rate of 89% using automated comparative...

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    Conflict of Interest:
    None declared.