Heterozygous missense mutation in SEC24A associated with autosomal dominant spinocerebellar ataxia

Takuya Morikawa; Shiroh Miura; Kengo Kosaka; Ryuta Fujioka; Ken Sano; Akiko Yorita; Kousuke Aoki; Yusuke Uchiyama; Takayuki Taniwaki; Hiroki Shibata

[3P-0801] Heterozygous missense mutation in SEC24A associated with autosomal dominant spinocerebellar ataxia

〇Takuya Morikawa¹, Shiroh Miura², Kengo Kosaka¹, Ryuta Fujioka³, Ken Sano², Akiko Yorita², Kousuke Aoki¹, Yusuke Uchiyama⁴, Takayuki Taniwaki², Hiroki Shibata¹ (1.Div. of Genomics, MIB, Uni of Kyushu, 2.Neurology, Medicine, Univ. of Kurume, 3.Food and Nutrition, Univ. of Beppu, 4.Radiology, Medicine, Univ. of Kurume)

exome sequencing, spinocerebellar ataxia, SEC24A

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The 39th Annual Meeting of the Molecular Biology Society of Japan

[3P-0801] Heterozygous missense mutation in SEC24A associated with autosomal dominant spinocerebellar ataxia

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