Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
de Carvalho
Mamede
M
Houlden
Henry
H
D005767:Gastrointestinal Diseases / Q000235:genetics*; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013118:Spinal Cord Diseases / Q000235:genetics* / Q000503:physiopathology*; D013577:Syndrome
C416506:AAAS protein, human; D005938:Glucocorticoids; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins