@article{f6661a8fb4264096a96b8dc076f52343,
title = "Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients",
abstract = "Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.",
keywords = "Adaptor Proteins, Signal Transducing, Colorectal Neoplasms, DNA-Binding Proteins, Denmark, European Continental Ancestry Group, Genetic Counseling, Humans, Introns, MutS Homolog 2 Protein, Mutation, Nuclear Proteins, RNA Splice Sites",
author = "Petersen, {Sanne M} and Mette Dandanell and Rasmussen, {Lene J} and Gerdes, {Anne-Marie Ax{\o}} and Krogh, {Lotte Nylandsted} and Inge Bernstein and Henrik Okkels and Friedrik Wikman and Nielsen, {Finn C} and Hansen, {Thomas V O}",
year = "2013",
doi = "10.1186/1471-2350-14-103",
language = "English",
volume = "14",
pages = "103",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central",
}