Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2017
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477372/
https://ncbi.nlm.nih.gov/pubmed/28378819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.45
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