换一批
换一批Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
作者：
主题词
动物(Animals);孤独性障碍(Autistic Disorder);碱基序列(Base Sequence);脑(Brain);细胞分化(Cell Differentiation);颅面骨畸形(Craniofacial Abnormalities);DNA突变分析(DNA Mutational Analysis);减量调节(Down-Regulation);癫痫(Epilepsy);女(雌)性(Female);高尔基体(Golgi Apparatus);人类(Humans);男(雄)性(Male);精神发育迟滞, X连锁(Mental Retardation, X-Linked);小鼠(Mice);分子序列数据(Molecular Sequence Data);突变(Mutation);神经元(Neurons);器官特异性(Organ Specificity);系谱(Pedigree);蛋白质转运(Protein Transport);RNA, 小分子干扰(RNA, Small Interfering);突触(Synapses);rab GTP结合蛋白质类(rab GTP-Binding Proteins)
DOI
10.1016/j.ajhg.2010.01.011
PMID
20159109
发布时间
2021-10-20
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