CHEN Junlin, LI Haiqing, LIU Yanlin, LI Bingxiao, ZHANG Zhanhui [Abstract]Objective: To identify the aberrant splicing transcripts caused by the intron variation IVS6-11A>G (c.615-11A>G) of human SLC25A13 gene u...
1016j.gene.2019.01.023] 湖北新生儿肝内胆汁淤积症患儿slc25a13基因突变筛查及相关研究 一种人类SLC25A13基因检测试剂盒及应用 Slc6a13基因及其蛋白的用途 Gene Mutations in Apical:在顶端的基因突变 SLC26A4基因突变与耳聋 一种常见致聋SLC26A4基因突变体的剪接调控研究 基因突变【25页】 一种新SLC9A6突变基因...
Sequence of the Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening primers are displayed as SEQ ID NO.1-8. The Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening reagent box comprises the primers, dNTPs, deoxyribonucleic acid ...
价格￥960.00￥1600.00 包装50ul100ul 最小起订量50ul 发货地北京 更新日期2025-03-10 QQ交谈微信洽谈 产品详情 中文名称:Anti-SLC25A13 Polyclonal Antibody英文名称:Anti-SLC25A13 Polyclonal Antibody Gene ID:10165Public Immunogen Range:Recombinant protein of human SLC25A13 ...
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we...
1) SLC25A13 gene SLC25A13基因 1. SLC25A13 gene mutation in infants with intrahepatic cholestasis; 婴儿肝内胆汁淤积症SLC25A13基因突变分析 2. In 2001,SLC25A13 gene mutations were found in Japanese neonatal abnormal metabolism screening intrahepatic cholestasis children,and thus Neonatal Intrahepatic...
DescriptionRabbit anti-SLC25A13 polyclonal antibody. This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate an...
关键词: Citrullinemia SLC25A13 gene Compound heterozygotes DOI: 10.1016/S0022-510X(01)00646-3 年份: 2001 收藏 引用 批量引用 报错 分享 全部来源 求助全文 dx.doi.org 相似文献 参考文献 引证文献Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels We describe a ...
Gene Accession: Purity: Expression system: Tags: Background: solute carrier family 25 (aspartate/glutamate carrier), member 13 CTLN2; CITRIN; ARALAR2 Q9UJS0 BC006566 >85%, as determined by Coomassie blue stained SDS-PAGE Escherichia coli His tag C-Terminus, GST tag N-Terminus This gene ...
Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated ... Y Tazawa,K Kobayashi,T Ohura,... - 《Journal of Pediatrics》 被引量: 0发表: 2001年 加载更多来源...