[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease].
Elleuch
N
N
Feki
I
I
Turki
E
E
Miladi
M I
MI
Boukhris
A
A
Damak
M
M
Mhiri
C
C
Chappuis
E
E
Woimant
F
F
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D027682:Cation Transport Proteins / Q000235:genetics*; D002421:Caudate Nucleus / Q000473:pathology; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree
D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases