C03 FAN1 coding variants identified in individuals with Huntington’s disease implicate its nuclease activity and dna binding in age at onset

Caroline S. Binda, Branduff McAllister, G. Menzies, Gareth Edwards, James Davies, L. Jones, Thomas H. Massey
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在亨廷顿舞蹈病个体中发现的C03 FAN1编码变异与发病年龄的核酸酶活性和dna结合有关
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C03 FAN1 coding variants identified in individuals with Huntington’s disease implicate its nuclease activity and dna binding in age at onset C12 HTT repeat instability in family trios in the 100,000 genomes project C08 Knockout of mismatch repair genes MLH1 and MSH3 ablates expansion of the CAG repeat in a human iPSC model of Huntington’s disease C06 The role of FAN1 in HTT cag repeat instability and age at onset in the R6/1 mouse model of Huntington’s disease C10 Haplotype structure analysis of Indian Huntington’s disease patients at HTT gene locus
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