title: "Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
authors.forename: Giovanni Antonio
authors.initials: GA
authors.lastname: Cocco
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
authors.forename: Giovanni Mario
authors.initials: GM
authors.lastname: Pes
authors.forename: Francesco
authors.initials: F
authors.lastname: Tolu
authors.forename: Maria Barbara
authors.initials: MB
authors.lastname: Lepori
authors.forename: Marianna
authors.initials: M
authors.lastname: Barrocu
authors.forename: Gian Pietro
authors.initials: GP
authors.lastname: Sechi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000502:physiology; D000328:Adult; D019943:Amino Acid Substitution; D001479:Basal Ganglia / Q000473:pathology; D027682:Cation Transport Proteins / Q000235:genetics* / Q000502:physiology; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D019698:Hepatitis C, Chronic / Q000150:complications; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D008103:Liver Cirrhosis / Q000150:complications; D008297:Male; D020125:Mutation, Missense; D010396:Penicillamine / Q000009:adverse effects / Q000627:therapeutic use; D017433:Protein Structure, Secondary; D013921:Thrombocytopenia / Q000139:chemically induced; D014282:Trihexyphenidyl / Q000627:therapeutic use
chemical_list: D027682:Cation Transport Proteins; D014282:Trihexyphenidyl; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D010396:Penicillamine