Article
Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson's Disease.
Neuromolecular medicine - 1 Sept 2018
Roy Shubhrajit, Pal Prosenjit, Ghosh Sampurna, Bhattacharya Sreyashi, Das Shyamal Kumar, Gangopadhyay Prasanta Kumar, Bavdekar Ashish, Ray Kunal, Sengupta Mainak, Ray Jharna
Abstract excerpt
Wilson's disease (WD), an inborn error of copper metabolism caused by mutations in the ATPase copper transporting beta (ATP7B) gene, manifests variable age of onset and different degrees of hepatic and neurological disturbances. This complex phenotypical outcome of a classical monogenic disease can possibly be explained by modifier loci regulating the clinical course of the disease. The brain-derived neurotropic...
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