AB088. Mutation analysis of 16 Vietnamses Wilson patients

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport, which is caused by mutation in copper-transporting P-type ATPase (ATP7B). OBJECTIVE: The aim of this study was to detect mutations in hot-spot region of ATP7B gene, including exon 2b, 8, 11, 12, and 13. Sixteen u...

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Bibliographische Detailangaben
Veröffentlicht in:Ann Transl Med
Hauptverfasser: Nguyen, Thi Mai Hương, Ngoc, Ngo Diem, Nguyen, Thi Phương Mai, Hoa, Nguyen Pham Anh, Khánh, Trần Vân, Văn, Tạ Thành, Chi, Phan Van
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2015
Schlagworte:
Part 4: Oral/poster
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563458/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB088
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