QQ客服 官方微博 反馈留言

浏览/检索结果: 共2条，第1-2条 帮助 限定条件 专题：中南大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients 期刊论文 Neuroscience Letters, 2016, 卷号: 616, 页码: 26-31 作者:  Yuan, Lamei;  Song, Zhi;  Deng, Xiong;  Xiong, Wei;  Yang, Zhijian 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03 PD  Parkinson’s disease  MAPT  the microtubule-associated protein tau gene  GBA  the glucocerebrosidase gene  SMPD1  the sphingomyelin phosphodiesterase 1, acid lysosomal gene  MTHFR  the methylenetetrahydrofolate reductase gene  dbSNP  database of single nucleotide polymorphisms  SIFT  Sorting Intolerant from Tolerant  PolyPhen-2  Polymorphism Phenotyping version 2  MALDI-TOF MS  Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry  PCR  polymerase chain reaction  PASW  Predictive Analytics Software  OR  odds ratio  CI  confidence interval  Parkinson’s disease  MTHFR gene  Variant  rs1801131  rs1801133   A novel mutation of GATA4 (K300T) associated with familial atrial septal defect 期刊论文 Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477 作者:  Chen, Jia;  Qi, Bingyang;  Zhao, Juan;  Liu, Wei;  Duan, Ranhui* 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03 CHD  congenital heart diseases  ToF  tetralogy of Fallot  ASD  atrial septal defect  VSD  ventricular septal defect  AVSD  atrioventricular septal defect  DCM  dilated cardiomyopathy  HGMD  human gene mutation database  dbSNP  database of Single Nucleotide Polymorphisms  EVSD  Exome Variant Server Database  NLS  nuclear localization signal  SNP  Single nucleotide polymorphism  GATK  Genome Analysis Toolkit  PolyPhen-2  Polymorphism Phenotyping v2  SIFT  Sorting Intolerant From Tolerant  TAD  transcription activation domain  N-Znf  N-terminal zinc finger  C-Znf  C-terminal zinc finger  Ventricular septal defect  Incomplete penetrance  Whole exome sequencing  Post-translational modification  Methylation