Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

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第一作者： Dongxue,Ding

第一单位： Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.

作者： Dongxue,Ding ^[1] ; Zhao,Chen ^[1] ; Kai,Li ^[1] ; Zhe,Long ^[1] ; Wei,Ye ^[1] ; Zhaoli,Tang ^[1] ; Kun,Xia ^[2] ; Rong,Qiu ^[3] ; Beisha,Tang ^[1] ; Hong,Jiang ^[4]

作者单位： Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China. ^[1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China. ^[2] School of Information Science and Engineering, Central South University, Changsha, China. ^[3] Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China. ^[4]

主题词氨基酸序列(Amino Acid Sequence);动物(Animals);胞浆动力蛋白类(Cytoplasmic Dyneins);肌电描记术(Electromyography);女(雌)性(Female);足畸形(Foot Deformities);基因组, 人(Genome, Human);人类(Humans);分子序列数据(Molecular Sequence Data);系谱(Pedigree);表型(Phenotype);聚合酶链反应(Polymerase Chain Reaction);多态性, 单核苷酸(Polymorphism, Single Nucleotide);序列比对(Sequence Alignment);序列分析, DNA(Sequence Analysis, DNA);双生(Twins);青年人(Young Adult)

DOI 10.1038/srep20423

PMID 26846447

发布时间 2018-11-13

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Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

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Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

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