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Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam

BACKGROUND: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the ATP7B gene. In this study, we screened and identified the ATP7B mutations among unrelated Vietnamese pediatric patients. METHODS: One-hundred-thirteen pediatric patients w...

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Detalles Bibliográficos
Autores principales: Huong, Nguyen Thi Mai, Hoa, Nguyen Pham Anh, Ngoc, Ngo Diem, Mai, Nguyen Thi Phuong, Yen, Pham Hai, Anh, Hoàng Thị Vân, Hoa, Giang, Dien, Tran Minh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248214/
https://www.ncbi.nlm.nih.gov/pubmed/35782615
http://dx.doi.org/10.1016/j.ymgmr.2022.100861