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

• मुख्य लेखकों: Gang Liu (लेखक), Dingyuan Ma (लेखक), Jian Cheng (लेखक), Jingjing Zhang (लेखक), Chunyu Luo (लेखक), Yun Sun (लेखक), Ping Hu (लेखक), Yuguo Wang (लेखक), Tao Jiang (लेखक), Zhengfeng Xu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...