Article
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
Clinical chemistry - 1 Sept 2007
Gupta Arnab, Maulik Mahua, Nasipuri Poonam, Chattopadhyay Ishita, Das Shyamal K, Gangopadhyay Prasanta K, Ray Kunal
Abstract excerpt
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu(2+) transporting, beta-polypeptide gene (ATP7B) resulting in accumulation of copper in liver and brain. WD can be thwarted if detected at a presymptomatic stage, but occasional recombination during carrier detection with dinucleotide repeat markers flanking the WD locus may lead to faulty diagnosis. We examined...
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