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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,...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Liccardo, Raffaella, De Rosa, Marina, Rossi, Giovanni Battista, Carlomagno, Nicola, Izzo, Paola, Duraturo, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454912/
https://ncbi.nlm.nih.gov/pubmed/28481244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18050999
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