I am a
Home I AM A Search Login

Papers of the Week

Papers: 2 Mar 2024 - 7 Mar 2024

2024 Mar 01



Clinical Characteristics and Induced Pluripotent Stem Cells (iPSCs) Disease Model of Fabry Disease Caused by a Novel GLA Mutation.


Gao L, Lu Z, Zhang Y, Liu L, Sun J, Fu H, Mao J, Hu L


Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the GLA gene. We established a cohort of FD patients and performed whole-exome sequencing (WES) to identify some novel mutations.