Clinical utility gene card for: Fabry disease - update 2016

Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22.

Authors

Andreas Gal¹, Michael Beck², Wolfgang Höppner¹, Dominique P Germain³

Affiliations

¹ Bioglobe, Hamburg, Germany.
² Center for Child and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.
³ Division of Medical Genetics, University of Versailles-St Quentin en Yvelines, Paris Saclay University, Montigny, France.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Fabry Disease / diagnosis
Fabry Disease / epidemiology
Fabry Disease / genetics*
Genetic Testing / methods*
Genetic Testing / standards
Humans
alpha-Galactosidase / genetics*

Substances

alpha-Galactosidase