C: Genetic modifiers

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C: Genetic modifiers - 最新文献

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

Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.47 Caroline S. Binda, Branduff McAllister, G. Menzies, Gareth Edwards, James Davies, L. Jones, Thomas H. Massey

C06 The role of FAN1 in HTT cag repeat instability and age at onset in the R6/1 mouse model of Huntington’s disease

Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.50 K. Fears, Caroline S. Binda, Elin Miles, Thomas H. Massey, L. Jones

C08 Knockout of mismatch repair genes MLH1 and MSH3 ablates expansion of the CAG repeat in a human iPSC model of Huntington’s disease

Pub Date : 2022-09-01 DOI: 10.1136/jnnp-2022-ehdn.52 Joseph Stone, Thomas H. Massey, Nicholas Allen, L. Jones

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