Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
Nguyen Thi Mai HuongNguyen Thi Kim LienNgo Diem NgocNguyen Thi Phuong MaiNguyen Pham Anh HoaLe Thanh HaiPhan Van ChiTa Thanh VanTran Van KhanhNguyen Huy HoangPublished in: BMC medical genetics (2018)
In this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.