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Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. By direct sequencing, we identified 27 MSH6 variants, of which,...
Autores principales: | Liccardo, Raffaella, De Rosa, Marina, Rossi, Giovanni Battista, Carlomagno, Nicola, Izzo, Paola, Duraturo, Francesca |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454912/ https://www.ncbi.nlm.nih.gov/pubmed/28481244 http://dx.doi.org/10.3390/ijms18050999 |
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