Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report

• Main Authors: Gang Liu (Author), Dingyuan Ma (Author), Jian Cheng (Author), Jingjing Zhang (Author), Chunyu Luo (Author), Yun Sun (Author), Ping Hu (Author), Yuguo Wang (Author), Tao Jiang (Author), Zhengfeng Xu (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease. Case presentation We describe a male case of Wilson's disease diagnosed at...