Genetic analysis of ATP10B for Parkinson's disease in Japan |
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| Affiliation: | Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China |
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| Abstract: | Compound heterozygosity of ATP10B is thought to be a risk factor for young-onset Parkinson's disease (PD). We genetically screened 245 patients with young-onset sporadic PD and 33 patients with autosomal recessive PD for ATP10B. All 13 identified gene variants were heterozygous with little evidence of the pathogenicity. |
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| Keywords: | Familial Parkinson's disease ATP10B Gene variants PD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0030" }," $$" :[{" #name" :" text" ," _" :" Parkinson's disease ATP10B" },{" #name" :" keyword" ," $" :{" id" :" kwrd0040" }," $$" :[{" #name" :" text" ," _" :" ATPase phospholipid transporting 10B AR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0050" }," $$" :[{" #name" :" text" ," _" :" autosomal recessive sPD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0060" }," $$" :[{" #name" :" text" ," _" :" sporadic PD GEM-J WGA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0070" }," $$" :[{" #name" :" text" ," _" :" the GEnome Medical alliance Japan Whole Genome Aggregation |
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