Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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. 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

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    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