Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation.
Lees
Andrew J
AJ
Singleton
Andrew B
AB
D001480:Basal Ganglia Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods / Q000592:standards; D003937:Diagnosis, Differential; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006801:Humans; D008247:Lysosomes / Q000235:genetics / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006180:Proton-Translocating ATPases / Q000235:genetics*; D011712:Pyramidal Tracts / Q000503:physiopathology; D013577:Syndrome
C514983:ATP13A2 protein, human; D005819:Genetic Markers; D006180:Proton-Translocating ATPases