Article
GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
Gene - 10 Jan 2016
Peng Hao, Xu Xiaojuan, Zhang Lusi, Zhang Xuehong, Peng Hexiang, Zheng Yu, Luo Sanchuan, Guo Hui, Xia Kun, Li Jiada, Yao Hongliang, Hu Zhengmao
Abstract excerpt
Fabry disease (FD) was an X-linked lysosomal storage disorder resulting from a deficiency in glycosphingolipid catabolism caused by mutations in the α-galactosidase A gene GLA. Variant FD patients did not present with classical symptoms during childhood and were undiagnosed or misdiagnosed with other kidney diseases, such as chronic glomerulonephritis (CGN). In this study, we utilized exome sequencing and Sanger...
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