title: Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.
authors.affiliation: Department of Medical Genetics, FIN-00014 University of Helsinki, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Renkonen
authors.forename: H
authors.initials: H
authors.lastname: Lohi
authors.forename: H J
authors.initials: HJ
authors.lastname: Järvinen
authors.forename: J-P
authors.initials: JP
authors.lastname: Mecklin
authors.forename: P
authors.initials: P
authors.lastname: Peltomäki
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D020137:Base Pair Mismatch / Q000235:genetics*; D002352:Carrier Proteins; D003001:Cloning, Molecular / Q000379:methods; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012313:RNA / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; D000079962:RNA, Circular; D012334:RNA, Neoplasm / Q000235:genetics; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D018076:DNA, Complementary; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D000079962:RNA, Circular; D012334:RNA, Neoplasm; D012313:RNA; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein