Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants

@article{Pagenstecher2005AberrantSI,
  title={Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants},
  author={Constanze Pagenstecher and Maria Wehner and Waltraut Friedl and Nils Rahner and Stefan Aretz and Nicolaus Friedrichs and Marlies Sengteller and Wolfram Henn and Reinhard Buettner and P. Propping and Elisabeth Mangold},
  journal={Human Genetics},
  year={2005},
  volume={119},
  pages={9-22}
}
Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive testing in persons at risk, their pathogenicity has to be evaluated. There is growing evidence that some substitutions have a detrimental influence on splicing. We examined 19… CONTINUE READING
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