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A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

机译:X连锁先天性眼球震颤的韩国人中GPR143基因的一个新的无意义突变

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<正>Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim’s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequencing.Congenital nystagmus is an inherited ocular disorder that can occur as an X-linked condition.Three genetic loci have been identified for X-linked congenital nystagmus(XLCN):
机译:<正>亲爱的编辑,我是韩国首尔市阳阳大学金眼医院的Ungsoo Samuel Kim博士,我写了一篇外显子测序,介绍了韩国X型先天性眼球震颤患者中GPR143的一种新型突变。眼球震颤是一种遗传性的眼疾,可能会以X连锁的状态发生。X连锁的先天性眼震(XLCN)已确定了三个遗传基因座:

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