Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy |
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| Affiliation: | 1. Department of Pediatrics, PUMC Hospital, CAMS&PUMC, Beijing 100730, PR China;2. Clinical Research Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, PR China;3. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, PR China |
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| Keywords: | Genetics Niemann-Pick Progressive supranuclear palsy Heterozygosity CBD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" Corticobasal Degeneration GBA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" glucocerebrosidase GD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" Gaucher's disease GRN" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" progranulin NPC" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" Niemann-Pick type C PD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" Parkinson's disease PSP" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" Progressive Supranuclear Palsy |
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