Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.

Dong Wang, Juan M. Pascual, Pavel Iserovich, Hong Yang, L. Ma, Kunyan Kuang, Felipe A. Zuniga, Ruo Peng Sun, Kavita M. Swaroop, Jorge Fischbarg, Darryl C. De Vivo

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Chemical Compounds