Article
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Human mutation - 1 Nov 2017
Wang Nan, Zhang Yeting, Gedvilaite Erika, Loh Jui Wan, Lin Timothy, Liu Xiuping, Liu Chang-Gong, Kumar Dibyendu, Donnelly Robert, Raymond Kimiyo, Schuchman Edward H, Sleat David E, Lobel Peter, Xing Jinchuan
Abstract excerpt
Lysosomes are membrane-bound, acidic eukaryotic cellular organelles that play important roles in the degradation of macromolecules. Mutations that cause the loss of lysosomal protein function can lead to a group of disorders categorized as the lysosomal storage diseases (LSDs). Suspicion of LSD is frequently based on clinical and pathologic findings, but in some cases, the underlying genetic and biochemical...
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