Functional evaluation of a novel GLA causative mutation in Fabry disease

ConclusionA novel GLA missense mutation, c.280T>C (Cys94Arg), was found in a Chinese family with predominant renal manifestations of FD. Our study reveals the pathogenesis of c.280T>C mutation to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD.

Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong ‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu Tags: ORIGINAL ARTICLE Source Type: research