Article
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
BMC medical genetics - 18 Jun 2018
Huong Nguyen Thi Mai, Lien Nguyen Thi Kim, Ngoc Ngo Diem, Mai Nguyen Thi Phuong, Hoa Nguyen Pham Anh, Hai Le Thanh, Van Chi Phan, Van Ta Thanh, Van Khanh Tran, Hoang Nguyen Huy
Abstract excerpt
BACKGROUND: Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver...
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