A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases a...

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Publicat a:J Med Genet
Autors principals: Clendenning, M, Senter, L, Hampel, H, Robinson, K Lagerstedt, Sun, S, Buchanan, D, Walsh, M D, Nilbert, M, Green, J, Potter, J, Lindblom, A, de la Chapelle, A
Format: Artigo
Idioma:Inglês
Publicat: 2008
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4339871/
https://ncbi.nlm.nih.gov/pubmed/18178629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.056150
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