Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

@inproceedings{Klift2015SplicingAF,
  title={Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses},
  author={Heleen M. van der Klift and Anne Ml Jansen and Niki van der Steenstraten and Elsa C Bik and Carli M. J. Tops and Peter Devilee and Juul Th Wijnen},
  booktitle={Molecular genetics & genomic medicine},
  year={2015}
}
A subset of DNA variants causes genetic disease through aberrant splicing. Experimental splicing assays, either RT-PCR analyses of patient RNA or functional splicing reporter minigene assays, are required to evaluate the molecular nature of the splice defect. Here, we present minigene assays performed for 17 variants in the consensus splice site regions, 14 exonic variants outside these regions, and two deep intronic variants, all in the DNA mismatch-repair (MMR) genes MLH1, MSH2, MSH6, and… CONTINUE READING
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