A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
De Rosa
Anna
A
Carducci
Carla
C
Antonozzi
Italo
I
Giovanniello
Teresa
T
Xhoxhi
Evgjeni
E
Criscuolo
Chiara
C
Menchise
Valeria
V
Striano
Salvatore
S
Filla
Alessandro
A
De Michele
Giuseppe
G
D000293:Adolescent; D004252:DNA Mutational Analysis / Q000379:methods; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use; D015259:Dopamine Agents / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D005192:Family Health; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005973:Glutamine / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D009154:Mutation
D015259:Dopamine Agents; D005973:Glutamine; D006639:Histidine; D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase