Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

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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Bibliographic Details
Main Authors: Jan Lukas, Anne-Katrin Giese, Arseni Markoff, Ulrike Grittner, Ed Kolodny, Hermann Mascher, Karl J Lackner, Wolfgang Meyer, Phillip Wree, Viatcheslav Saviouk, Arndt Rolfs
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3731228?pdf=render

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http://europepmc.org/articles/PMC3731228?pdf=render

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