학술논문
Evaluation of non-coding variation in GLUT1 deficiency.
Document Type
Journal Article
Author
Liu, Yu‐Chi; Lee, Jia Wei Audrey; Bellows, Susannah T; Damiano, John A; Mullen, Saul A; Berkovic, Samuel F; Bahlo, Melanie; Scheffer, Ingrid E; Hildebrand, Michael S; Ryan, Monique M.; Leventer, Richard J.; Freeman, Jeremy L.; Mackay, Mark T.; Hayman, Michael; Rodriguez‐Casero, Victoria; Subramanian, Gopi; Webster, Richard; Sadleir, Lynette G.
Source
Subject
*GLUCOSE transporter 1 deficiency syndrome
*BLOOD-brain barrier disorders
*DNA copy number variations
*GENETIC mutation
*CEREBROSPINAL fluid
*NON-coding RNA
*THERAPEUTICS
*CARRIER proteins
*EPILEPSY
*GENEALOGY
*GENETIC techniques
*GENOMES
*GLUCOSE
*INBORN errors of carbohydrate metabolism
*SEQUENCE analysis
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Language
ISSN
0012-1622
Abstract