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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Short Report
Mynediad Ar-lein: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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