Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
Ichinose Y, Koh K, Fukumoto M, Yamashiro N, Kobayashi F, Miwa M, Nagasaka T, Shindo K, Ishiura H, Tsuji S, et al. Clin Neurol Neurosurg. 2016 May; 144:36-8. Epub 2016 Mar 4.