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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,...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Liccardo, Raffaella, De Rosa, Marina, Rossi, Giovanni Battista, Carlomagno, Nicola, Izzo, Paola, Duraturo, Francesca
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2017
Gaiak:
Sarrera elektronikoa: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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