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Rigshospitalet - a part of Copenhagen University Hospital
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Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

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DOI

  1. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

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  2. Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

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  3. Identification of 3 novel VHL germ-line mutations in Danish VHL patients

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  4. Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

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  1. Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas

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  2. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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  3. Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort

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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.
Original languageEnglish
JournalB M C Medical Genetics
Volume14
Pages (from-to)e103
ISSN1471-2350
DOIs
Publication statusPublished - 2013

    Research areas

  • 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

ID: 42316707