Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.-论文-万方医学网

作者： Kinga,Szigeti ^[1] ; Wojciech,Wiszniewski ; Gulam Mustafa,Saifi ; Diane L,Sherman ; Norbert,Sule ; Adekunle M,Adesina ; Pedro,Mancias ; Sozos Ch,Papasozomenos ; Geoffrey,Miller ; Laura,Keppen ; Donna,Daentl ; Peter J,Brophy ; James R,Lupski

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA. ^[1]

主题词氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);结合部位(Binding Sites);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);儿童, 学龄前(Child, Preschool);DNA(DNA);早期生长反应蛋白质2(Early Growth Response Protein 2);基因, 显性(Genes, Dominant);基因, 隐性(Genes, Recessive);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);纯合子(Homozygote);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);纵向研究(Longitudinal Studies);分子序列数据(Molecular Sequence Data);突变(Mutation);突变, 误义(Mutation, Missense);神经纤维, 有髓鞘的(Nerve Fibers, Myelinated);表型(Phenotype);点突变(Point Mutation);序列同源性, 氨基酸(Sequence Homology, Amino Acid);锌指(Zinc Fingers)

DOI 10.1007/s10048-007-0094-0

PMID 17717711

发布时间 2018-11-13

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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Neurogenetics

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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Neurogenetics

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Neurogenetics

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