Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

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 to...

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Hlavní autoři: Lukas, Jan, Giese, Anne-Katrin, Markoff, Arseni, Grittner, Ulrike, Kolodny, Ed, Mascher, Hermann, Lackner, Karl J., Meyer, Wolfgang, Wree, Phillip, Saviouk, Viatcheslav, Rolfs, Arndt
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3731228/
https://ncbi.nlm.nih.gov/pubmed/23935525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003632
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