Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06028 Dopamine and serotonin metabolism nt06544 Neuroactive ligand signaling |
Disease |
H02557 | Dopa-responsive dystonia |
|
Reference |
|
Authors |
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K |
Title |
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. |
Journal |
|
LinkDB |
|