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Analysis of BRCA and HNPCC mutations

Analysis of BRCA and HNPCC mutations

Analysis of BRCA and HNPCC mutations

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LEVELS OF ANALYSISPATIENT RNAin most cases not availableIn silico predictionsnot sufficient for diagnosisnot always accurateFunctional splicing assaystime-consuming but very usefulSplicing reporter minigene assays, reviewed in:Baralle <strong>and</strong> Baralle J. Med. Genet. 2005;42;737-748Cooper TA. Methods 2005; 37:331-340

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