远端型遗传性运动神经元病家系全基因组外显子测序研究
Study of Exome Sequencing in a Distal Hereditary Motor Neuron Family
师蕊婷,
周建文,
邓素雯,
蒋嵩山,
何姝婧,
宋新明,
陈 争
SHI Rui-ting,
ZHOU Jian-wen,
DENG Su-wen,
JIANG Song-shan,
HE Shu-jing,
SONG Xin-ming
Keywords: 全基因外显子组测序,远端型遗传性运动神经元病V型,BSCL2基因,
exome sequencing,dHMN-V, BSCL2 gene
Abstract:
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