Article
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
Behavioral and brain functions : BBF - 15 Jun 2010
Gupta Arnab, Chattopadhyay Ishita, Mukherjee Shashwata, Sengupta Mainak, Das Shyamal K, Ray Kunal
Abstract excerpt
Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical symptoms due to unknown cause. To understand the molecular etiology of atypical WD manifestations, we screened COMMD1, a gene implicated in canine copper toxicosis, in 109 WD patients including...
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