Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.
Jamrozik
Zygmunt
Z
Lugowska
Agnieszka
A
Slawek
Jaroslaw
J
Kwiecinski
Hubert
H
D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics; D020961:Lewy Body Disease / Q000196:embryology / Q000235:genetics; D019578:Multiple System Atrophy / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D011044:Poland; D012307:Risk Factors; D013494:Supranuclear Palsy, Progressive / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology
D005819:Genetic Markers; D005962:Glucosylceramidase