Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe
J Rafael
JR
Center for Genetic Medicine, Children's National Medical Center, Washington, District of Columbia 20010, USA. rgorospe@cnmcresearch.org
Maletkovic
Jelena
J
D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D001253:Astrocytes / Q000473:pathology / Q000502:physiology*; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D008967:Molecular Biology / Q000379:methods; D017354:Point Mutation / Q000235:genetics
D005904:Glial Fibrillary Acidic Protein; C425069:MLC1 protein, human; D008565:Membrane Proteins