Article
Characterization of the mismatch repair defect in the human lymphoblastoid MT1 cells.
Cancer research - 1 Jun 2005
Szadkowski Marta, Iaccarino Ingram, Heinimann Karl, Marra Giancarlo, Jiricny Josef
Abstract excerpt
Mutations in mismatch repair (MMR) genes predispose to hereditary nonpolyposis colon cancer. Those leading to truncated proteins bring about a MMR defect, but phenotypes of missense mutations are harder to predict especially if they do not affect conserved residues. Several systems capable of predicting the phenotypes of MMR missense mutations were described. We deployed one of these to study the MMR defect in...
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