Article
Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.
The Indian journal of medical research - 1 Feb 2015
Mathur Manjula, Singh Ekta, Poduval T B, Rao Akkipeddi V S S N
Abstract excerpt
BACKGROUND & OBJECTIVES: Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in ATP7B, a copper transporter gene, leading to hepatic and neuropsychiatric manifestations due to copper accumulation. If diagnosed early, WD patients can be managed by medicines reducing morbidity and mortality. Diagnosis of this disease requires a combination of tests and at times is inconclusive due to...
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