Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

BACKGROUND: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC...

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Detalhes bibliográficos
Main Authors: Castillejo, Adela, Guarinos, Carla, Martinez-Canto, Ana, Barbera, Victor-Manuel, Egoavil, Cecilia, Castillejo, Maria-Isabel, Perez-Carbonell, Lucia, Sanchez-Heras, Ana-Beatriz, Segura, Angel, Ochoa, Enrique, Lazaro, Rafael, Ruiz-Ponte, Clara, Bujanda, Luis, Andreu, Montserrat, Castells, Antoni, Carracedo, Angel, Llor, Xavier, Clofent, Juan, Alenda, Cristina, Paya, Artemio, Jover, Rodrigo, Soto, Jose-Luis
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3034663/
https://ncbi.nlm.nih.gov/pubmed/21247423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-12
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