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Page 1
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Raevaara TE, et al. Among authors: nystrom m. Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005. Gastroenterology. 2005. PMID: 16083711
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M. Ollila S, et al. Among authors: nystrom m. Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22. Gastroenterology. 2006. PMID: 17101317
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
Christensen LL, Kariola R, Korhonen MK, Wikman FP, Sunde L, Gerdes AM, Okkels H, Brandt CA, Bernstein I, Hansen TV, Hagemann-Madsen R, Andersen CL, Nyström M, Ørntoft TF. Christensen LL, et al. Among authors: nystrom m. Fam Cancer. 2009;8(4):489-500. doi: 10.1007/s10689-009-9274-4. Epub 2009 Aug 21. Fam Cancer. 2009. PMID: 19697156
387 results