A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
Ohta
Etsuro
E
Toyoshima
Itaru
I
Funayama
Manabu
M
Ichinose
Hiroshi
H
Hasegawa
Kazuko
K
Obata
Fumiya
F
D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D009154:Mutation; D013912:Threonine / Q000235:genetics*
D007532:Isoleucine; D013912:Threonine; D006136:GTP Cyclohydrolase