EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients

The standard genetic test for Lynch syndrome (LS) frequently reveals an absence of pathogenic mutations in DNA mismatch repair genes known to be associated with LS. It was recently shown that germ line deletions in the last exons of EPCAM are involved in the etiology of LS. The aim of this study was...

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Hauptverfasser: Guarinos, Carla, Castillejo, Adela, Barberá, Víctor-Manuel, Pérez-Carbonell, Lucía, Sánchez-Heras, Ana-Beatriz, Segura, Ángel, Guillén-Ponce, Carmen, Martínez-Cantó, Ana, Castillejo, María-Isabel, Egoavil, Cecilia-Magdalena, Jover, Rodrigo, Payá, Artemio, Alenda, Cristina, Soto, José-Luís
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2010
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963912/
https://ncbi.nlm.nih.gov/pubmed/20864635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.100039
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