换一批Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
第一作者：
Fei,Mao
第一单位：
The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Genetics, Shandong University School of Medicine, Jinan, Shandong, 250012, China.
作者：
医学主题词
氨基酸取代(Amino Acid Substitution);动物(Animals);骨形态发生蛋白质类(Bone Morphogenetic Proteins);遗传关联研究(Genetic Association Studies);人类(Humans);INDEL突变(INDEL Mutation);膜转运蛋白质类(Membrane Transport Proteins);多态性, 单核苷酸(Polymorphism, Single Nucleotide);信号传导(Signal Transduction);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary);斑马鱼(Zebrafish)
DOI
10.1002/humu.22732
PMID
25402622
发布时间
2015-02-05
- 浏览56
Human mutation
240-9页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
