TY  - GEN
AU  - Willemsen,Michèl A
AU  - Vissers,Lisenka Elm
AU  - Verbeek,Marcel M
AU  - van Bon,Bregje W
AU  - Geuer,Sinje
AU  - Gilissen,Christian
AU  - Klepper,Joerg
AU  - Kwint,Michael P
AU  - Leen,Wilhelmina G
AU  - Pennings,Maartje
AU  - Wevers,Ron A
AU  - Veltman,Joris A
AU  - Kamsteeg,Erik-Jan
TI  - Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome
SN  - 1476-5438
PY  - 2017///0912
KW  - 5' Untranslated Regions
KW  - Adolescent
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - diagnosis
KW  - Cells, Cultured
KW  - Codon, Initiator
KW  - genetics
KW  - Female
KW  - Glucose Transporter Type 1
KW  - Humans
KW  - Monosaccharide Transport Proteins
KW  - deficiency
KW  - Mutation
KW  - Peptide Chain Initiation, Translational
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ejhg.2017.45
ER  -