换一批Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
第一作者：
Can,Liao
第一单位：
Department of Medical Genetics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical College, Guangzhou, China; Department of Molecular Biology, Guangzhou Medical College, Guangzhou, China. Electronic address: canliao@hotmail.com.
作者：
医学主题词
青少年(Adolescent);成年人(Adult);动物(Animals);脑(Brain);病例对照研究(Case-Control Studies);儿童(Child);儿童, 学龄前(Child, Preschool);染色体, 人(Chromosomes, Human);DNA拷贝数变异(DNA Copy Number Variations);二肽基肽酶类和三肽基肽酶类(Dipeptidyl-Peptidases and Tripeptidyl-Peptidases);女(雌)性(Female);基因缺失(Gene Deletion);基因, 显性(Genes, Dominant);遗传关联研究(Genetic Association Studies);人类(Humans);男(雄)性(Male);小鼠(Mice);小头畸形(Microcephaly);中年人(Middle Aged);突变, 误义(Mutation, Missense);神经组织蛋白质类(Nerve Tissue Proteins);钾通道(Potassium Channels)
DOI
10.1016/j.ejmg.2013.06.008
PMID
23832105
发布时间
2013-09-23
- 浏览15
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
