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肝脏特异性表达载体Kbpala/Alb-ATP7B 的构建及表达
白蛋白类 启动子 肝豆状核变性 基因表达
2009/8/26
目的：构建小鼠白蛋白启动子引导下携带野 生及常见突变型Arg778Leu、His1069Gln的人ATP7B cDNA的肝脏特异 性表达载体Kbpala/Alb-ATP7B，并检测其表达情况。方法:定点突变法获取人群中常见的Arg778Leu及His1069Gln两种ATP7B突变体，定向克隆将小鼠白蛋白启动子Alb序列及野生和突变的ATP7B cDNA依次亚克隆至转基因载体Kbpala上，得到可...
Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
genotype-phenotype mutation ATP7B Wilson’s disease
2009/4/1
Wilson’s disease (WD), an autosomal recessive disorder of copper transport, usually presents with symptoms of the liver or central nervous system. The known disease-caused mutations identified in the ...
Familial Genetic Analysis of Copper Transporting P-type ATPase（ATP7B）
Wilson's disease copper-transporting P-type ATPase (ATP7B) genetic analysis molecular diagnosis
2009/3/23
We have analyzed the copper-transporting P-type ATPase (ATP7B) gene responsible for Wilson's disease to provide an explanation for the early onset of acute hepatitis. The ATP7B coding sequence, includ...
Genetic Variation in ATP7B Promotor and 5' UTR in Han Chinese Patients with Wilson's Disease
Wilson's disease copper the ATP7B gene promoter metal response elements
2009/3/16
Wilson's disease (WD) is an autosomal recessive disorder of copper transport characterized by the accumulation of intracellular copper in the liver and extrahepatic tissues. The WD gene (ATP7B) encode...