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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...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2009
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| 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 |