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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...