蛋白酶抑制剂 12 L47P 基因突变的日本家系 1 例.
关键词: Familial encephalopathy with neuroserpin inclusion bodies L47P mutation Neuroserpin Progressive myoclonus epilepsy
Mesh : Adult Asian People / genetics Epilepsies, Myoclonic / genetics Female Heredodegenerative Disorders, Nervous System / genetics Humans Japan Male Mutation Neuropeptides / genetics Pedigree Serpins / genetics Neuroserpin
来 源:
DOI:10.1016/j.jns.2017.11.029
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