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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Vydáno v:BMC Med Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup: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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