AGC1 deficiency and cerebral hypomyelination.
Wolf
Nicole I
NI
van der Knaap
Marjo S
MS
D026922:Amino Acid Transport Systems, Acidic / Q000172:deficiency*; D017920:Antiporters / Q000172:deficiency; D001284:Atrophy; D054022:Cerebrum / Q000473:pathology*; D004827:Epilepsy; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*
D026922:Amino Acid Transport Systems, Acidic; D017920:Antiporters; D033681:Mitochondrial Membrane Transport Proteins; C114606:SLC25A12 protein, human