Article
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
PLoS genetics - 1 Jan 2013
Lukas Jan, Giese Anne-Katrin, Markoff Arseni, Grittner Ulrike, Kolodny Ed, Mascher Hermann, Lackner Karl J, Meyer Wolfgang, Wree Phillip, Saviouk Viatcheslav, Rolfs Arndt
Abstract excerpt
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A). To date, over 400 mutations causing amino acid substitutions have been described. Most of these mutations are related...
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