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

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 neurologica...

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Bibliografische gegevens
Gepubliceerd in:BMC Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2018
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6006946/
https://ncbi.nlm.nih.gov/pubmed/29914392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0619-4
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