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An AOA2 patient with a novel compound heterozygous SETX frame shift mutations.
Motokura E, Yamashita T, Takahashi Y, Tsunoda K, Sato K, Takemoto M, Hishikawa N, Ohta Y, Hashiguchi A, Takashima H, Abe K. Motokura E, et al. Among authors: ohta y. J Neurol Sci. 2017 Jan 15;372:294-296. doi: 10.1016/j.jns.2016.11.074. Epub 2016 Nov 30. J Neurol Sci. 2017. PMID: 28017231 No abstract available.
2,804 results