Article
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
Human genetics - 1 Oct 2005
Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das S K, Gangopadhyay P K, Ray K
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder caused by defects in the copper-transporting P-type ATPase gene (ATP7B) resulting in the accumulation of copper in the liver and the brain. We identified prevalent mutations in the ATP7B of Indian WD patients and attempted to correlate those...
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