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.

Gang LiuDingyuan MaJian ChengJingjing ZhangChunyu LuoYun SunPing HuYuguo WangTao JiangZhengfeng Xu

Published in: BMC medical genetics (2018)

By comparison, a replication-based mechanism named fork stalling and template switching/ microhomology-mediated break-induced replication (FoSTeS/MMBIR) was used to explain the formation of this novel deletion mutation.

Keyphrases

high glucose
diabetic rats
case report
copy number
genome wide
endothelial cells
transcription factor
simultaneous determination