| 概要 |
Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like protein 1 (CTL1). CTL1 is a highly conserved Na+-independent, intermediate-affinity transporter of choline.
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| 著者 |
Fagerberg CR, Taylor A, Distelmaier F, Schroder HD, Kibaek M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbol EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M |
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