Open AccessGene Mutations Versus Clinically Relevant Phenotypes
Author(s) -
Markus Niemann,
Arndt Rolfs,
Stefan Störk,
Bart Bijnens,
Frank Breunig,
Meinrad Beer,
Georg Ertl,
Christoph Wanner,
Frank Weidemann
Publication year - 2014
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.113.000249
Subject(s) - fabry disease , medicine , biomarker , mutation , cohort , disease , genetic testing , gene mutation , genotype , pathology , gene , genetics , biology
Currently, no method is available to identify α-galactosidase A (agalA) mutations determining clinically relevant Fabry disease. In our largest European Fabry cohort, we investigated whether a biomarker, specific for the defect, could stratify persons at risk.
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