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Region Hovedstaden - en del af Københavns Universitetshospital
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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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. The current epidemic of HPV-associated oropharyngeal cancer: An 18-year Danish population-based study with 2,169 patients

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftB M C Medical Genetics
Vol/bind14
Sider (fra-til)e103
ISSN1471-2350
DOI
StatusUdgivet - 2013

ID: 42316707