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

• Hauptverfasser: Gang Liu (Verfasst von), Dingyuan Ma (Verfasst von), Jian Cheng (Verfasst von), Jingjing Zhang (Verfasst von), Chunyu Luo (Verfasst von), Yun Sun (Verfasst von), Ping Hu (Verfasst von), Yuguo Wang (Verfasst von), Tao Jiang (Verfasst von), Zhengfeng Xu (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2018-04-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: 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...