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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Pubblicato in:BMC Med Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Case Report
Accesso online: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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