The Japanese Biochemical Society

[3P-132(2T12a-07)] Characterization of early brain pathogenesis in the mouse model of THMD2

Yamada Kenichiro1, Chiba Yoichi2, Kawauchi Machi2, Katoh Kimiko1, Nomura Noriko1, Ueno Masaki2, Wakamatsu Nobuaki2,3 (1.Dept Genet, Inst for Development Res, Aichi Human Serv Ctr., 2.Dept Pathol and Host Def, Facult of Med, Kagawa Univ., 3.Dept Neurol, Neurol and Stroke Ctr, Takamatsu Municip Hosp.)

キーテクノロジー:exome analysis

SLC19A3 deficiency、thiamine、THMD2、neurodegeneration

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