Willemsen, Michèl A <br/><br/>
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  06 2017 
 - 771-774 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2017.45  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>5' Untranslated Regions<br/>Adolescent<br/>Carbohydrate Metabolism, Inborn Errors--diagnosis<br/>Cells, Cultured<br/>Codon, Initiator--genetics<br/>Female<br/>Glucose Transporter Type 1--genetics<br/>Humans<br/>Monosaccharide Transport Proteins--deficiency<br/>Mutation<br/>Peptide Chain Initiation, Translational