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Papers of the Week


Papers: 2 Mar 2024 - 7 Mar 2024


2024 Mar 01


QJM


38429952

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

Authors

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

Abstract

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.