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Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast

BACKGROUND: Loss of DNA mismatch repair (MMR) in humans, mainly due to mutations in the hMLH1 gene, is linked to hereditary nonpolyposis colorectal cancer (HNPCC). Because not all MLH1 alterations result in loss of MMR function, accurate characterization of variants and their classification in terms...

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Detalles Bibliográficos
Autores principales: Vogelsang, Matjaz, Comino, Aleksandra, Zupanec, Neja, Hudler, Petra, Komel, Radovan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773791/
https://www.ncbi.nlm.nih.gov/pubmed/19863800
http://dx.doi.org/10.1186/1471-2407-9-382