A novel mutation in ATP7B gene associated with severe neurological and psychiatric symptoms.
Mihaylova
V
V
Todorov
T
T
Tournev
I
I
Cherninkova
S
S
Nikoevski
N
N
Raicheva
M
M
Iankova
P
P
Petrova
I
I
Savov
A
A
Kremesky
I
I
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001284:Atrophy; D001921:Brain / Q000473:pathology; D027682:Cation Transport Proteins / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009460:Neurologic Examination; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases