A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
Beyer
K
K
Lao-Villadóniga
J I
JI
Vecino-Bilbao
B
B
Cacabelos
R
R
De la Fuente-Fernández
R
R
D004421:Dystonia / Q000235:genetics*; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D009710:Nucleotide Mapping; D010375:Pedigree; D017354:Point Mutation
D006136:GTP Cyclohydrolase