"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
Cocco
Giovanni Antonio
GA
Loudianos
Georgios
G
Pes
Giovanni Mario
GM
Tolu
Francesco
F
Lepori
Maria Barbara
MB
Barrocu
Marianna
M
Sechi
Gian Pietro
GP
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
D027682:Cation Transport Proteins; D014282:Trihexyphenidyl; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D010396:Penicillamine