换一批Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
第一作者：
Yuan,Cheng
第一单位：
a Department of Neurology , The First Affiliated Hospital of Zhengzhou University, Zhengzhou University , Zhengzhou , PR China.;b Institute of Clinical Medicine , The First Affiliated Hospital of Zhengzhou University, Zhengzhou University , Zhengzhou , PR China.
作者：
医学主题词
成年人(Adult);中国(China);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);突变(Mutation);泛酸激酶相关性神经退行性疾病(Pantothenate Kinase-Associated Neurodegeneration);系谱(Pedigree);磷酸转移酶类(醇族体)(Phosphotransferases (Alcohol Group Acceptor))
DOI
10.1080/00207454.2018.1483364
PMID
29962256
发布时间
2022-12-07
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