title: [A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease].
authors.forename: N
authors.initials: N
authors.lastname: Elleuch
authors.forename: I
authors.initials: I
authors.lastname: Feki
authors.forename: E
authors.initials: E
authors.lastname: Turki
authors.forename: M I
authors.initials: MI
authors.lastname: Miladi
authors.forename: A
authors.initials: A
authors.lastname: Boukhris
authors.forename: M
authors.initials: M
authors.lastname: Damak
authors.forename: C
authors.initials: C
authors.lastname: Mhiri
authors.forename: E
authors.initials: E
authors.lastname: Chappuis
authors.forename: F
authors.initials: F
authors.lastname: Woimant
mesh_terms: 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
chemical_list: D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases