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• W631007461 abstract "9 INTRODUCTION 11 REVIEW OF THE LITERATURE 13 Cancer 13 Cancer genetics 14 Oncogenes and tumour suppressor genes 14 Hereditary cancer 15 DNA maintenance 17 Origins of mutagenesis 17 DNA repair pathways 17 Mismatch repair 22 MMR in Escherichia coli 23 MMR in eukaryotes 24 Hereditary nonpolyposis colorectal cancer 31 Genetics of HNPCC 31 Clinical characteristics of HNPCC patients 33 Muir-Torre syndrome 35 Nontruncating mutations in HNPCC 35 Frequency of nontruncating mutations in MMR genes 35 Functional analysis of nontruncating MMR gene variants 36 AIMS OF THE PRESENT STUDY 39 MATERIALS AND METHODS 40 MSH2 mutations and associated families (I-IV) 40 Functional assays (I-IV) 43 Protein expression and coimmunoprecipitation (I-IV) 43 Protein purification (III-IV) 45 Mismatch repair assays (I-IV) 46 Bandshift assays (III-IV) 49" @default.
• W631007461 created "2016-06-24" @default.
• W631007461 creator A5048558990 @default.
• W631007461 date "2008-09-19" @default.
• W631007461 modified "2023-09-26" @default.
• W631007461 title "Pathogenicity, functional significance and clinical phenotype of mismatch repair gene MSH2 variants found in cancer patients" @default.
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