MLH1 methylation screening is effective in identifying epimutation carriers

Recently, constitutional MLH1 epimutations have been identified in a subset of Lynch syndrome (LS) cases. The aim of this study was the identification of patients harboring constitutional MLH1 epimutations in a set of 34 patients with a clinical suspicion of LS, MLH1-methylated tumors and non-detect...

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Autors principals: Pineda, Marta, Mur, Pilar, Iniesta, María Dolores, Borràs, Ester, Campos, Olga, Vargas, Gardenia, Iglesias, Sílvia, Fernández, Anna, Gruber, Stephen B, Lázaro, Conxi, Brunet, Joan, Navarro, Matilde, Blanco, Ignacio, Capellá, Gabriel
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499751/
https://ncbi.nlm.nih.gov/pubmed/22763379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.136
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