Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Autor: Tayebi, Naeimeh1 (AUTHOR), Leon‐Ricardo, Brian1 (AUTHOR), McCall, Kevin1 (AUTHOR), Mehinovic, Elvisa2 (AUTHOR), Engelstad, Kristin3 (AUTHOR), Huynh, Vincent3 (AUTHOR), Turner, Tychele N.2 (AUTHOR), Weisenberg, Judy1 (AUTHOR), Thio, Liu L.1 (AUTHOR), Hruz, Paul4 (AUTHOR), Williams, Robin S. B.5 (AUTHOR), De Vivo, Darryl C.3 (AUTHOR), Petit, Vincent6 (AUTHOR), Haller, Gabe1,2,7 (AUTHOR), Gurnett, Christina A.1 (AUTHOR) gurnettc@wustl.edu
Zdroj: Annals of Clinical & Translational Neurology. May2023, Vol. 10 Issue 5, p787-801. 15p.
Databáze: Academic Search Ultimate
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