换一批ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
第一作者：
Hiromi,Hirata
第一单位：
Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan.
作者：
医学主题词
畸形, 多发性(Abnormalities, Multiple);动物(Animals);关节挛缩(Arthrogryposis);载体蛋白质类(Carrier Proteins);细胞, 培养的(Cells, Cultured);染色体断裂点(Chromosome Breakpoints);比较基因组杂交(Comparative Genomic Hybridization);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);单倍型(Haplotypes);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);免疫印迹法(Immunoblotting);原位杂交(In Situ Hybridization);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);小鼠(Mice);突变(Mutation);神经元可塑性(Neuronal Plasticity);核蛋白质类(Nuclear Proteins);系谱(Pedigree);突触(Synapses);斑马鱼(Zebrafish);锌指(Zinc Fingers)
DOI
10.1016/j.ajhg.2013.03.021
PMID
23623388
发布时间
2021-10-21
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