[Genetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course].
第一作者:
Mika,Takayanagi
第一单位:
Department of Neurology, Dokkyo Medical University.
作者:
主题词
14-3-3蛋白质类(14-3-3 Proteins);等位基因(Alleles);氨基酸取代(Amino Acid Substitution);脑(Brain);密码子(Codon);克-亚综合征(Creutzfeldt-Jakob Syndrome);弥散磁共振成像(Diffusion Magnetic Resonance Imaging);疾病恶化(Disease Progression);脑电描记术(Electroencephalography);额颞叶痴呆(Frontotemporal Dementia);谷氨酸盐类(Glutamates);人类(Humans);赖氨酸(Lysine);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);多态现象, 遗传(Polymorphism, Genetic);tau蛋白质类(tau Proteins)
DOI
10.5692/clinicalneurol.cn-001206
PMID
30369528
发布时间
2019-01-30
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