Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
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J. Lupski | F. Quiocho | C. Boerkoel | D. Stockton | M. Nakagawa | Y. Mao | M. Salih | H. Takashima | Joy John | G. M. Saifi | D. Armstrong | B. Roa