Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

Abstract 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 neu...

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Main Authors: Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh, Nguyen Huy Hoang
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
Mutation of the ATP7B gene
Vietnamese patients
Wilson disease
Online Access:http://link.springer.com/article/10.1186/s12881-018-0619-4

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