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Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation

Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer...

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Detalles Bibliográficos
Autores principales: Pinto, Diana, Pinto, Carla, Guerra, Joana, Pinheiro, Manuela, Santos, Rui, Vedeld, Hege Marie, Yohannes, Zeremariam, Peixoto, Ana, Santos, Catarina, Pinto, Pedro, Lopes, Paula, Lothe, Ragnhild, Lind, Guro Elisabeth, Henrique, Rui, Teixeira, Manuel R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193414/
https://www.ncbi.nlm.nih.gov/pubmed/29341452
http://dx.doi.org/10.1002/cam4.1285