A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
Seibler
Philip
P
Djarmati
Ana
A
Langpap
Brigitte
B
Hagenah
Johann
J
Schmidt
Alexander
A
Brüggemann
Norbert
N
Siebner
Hartwig
H
Jabusch
Hans-Christian
HC
Altenmüller
Eckart
E
Münchau
Alexander
A
Lohmann
Katja
K
Klein
Christine
C
D004421:Dystonia / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D005858:Germany; D006579:Heterozygote; D006801:Humans; D016601:RNA-Binding Proteins / Q000235:genetics*
C104647:PRKRA protein, human; D016601:RNA-Binding Proteins