Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.
Pendlebury
S T
ST
Departments of General Medicine, University of Oxford, UK.
Rothwell
P M
PM
Dalton
A
A
Burton
E A
EA
D000251:Adenosine Triphosphatases / Q000235:genetics*; D019943:Amino Acid Substitution; D001479:Basal Ganglia / Q000473:pathology*; D002545:Brain Ischemia / Q000000981:diagnostic imaging / Q000209:etiology*; D027682:Cation Transport Proteins / Q000235:genetics*; D003062:Codon / Q000235:genetics; D000073840:Copper-Transporting ATPases; D004401:Dysarthria / Q000209:etiology*; D020233:Gait Disorders, Neurologic / Q000209:etiology*; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008636:Mesencephalon / Q000473:pathology*; D020125:Mutation, Missense; D017354:Point Mutation; D014057:Tomography, X-Ray Computed
D027682:Cation Transport Proteins; D003062:Codon; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases