Development of a rapid functional assay that predicts GLUT1 disease severity

Development of a rapid functional assay that predicts GLUT1 disease severity

<p><strong>Objective</strong> To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone.</p> <p><strong>Methods</strong> GLU...

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Bibliographic Details
Main Authors: Zaman, SM, Mullen, SA, Petrovski, S, Maljevic, S, Gazina, EV, Phillips, AM, Jones, GD, Hildebrand, MS, Damiano, J, Auvin, S, Lerche, H, Weber, YG, Berkovic, SF, Scheffer, IE, Reid, CA, Petrou, S
Format: Journal article
Language:English
Published: Lippincott, Williams & Wilkins 2018

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