Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

OBJECTIVES: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. SETTING AND PARTICIPANTS: In this monocentric study, all parti...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMJ Open
Prif Awduron: Oder, Daniel, Üçeyler, Nurcan, Liu, Dan, Hu, Kai, Petritsch, Bernhard, Sommer, Claudia, Ertl, Georg, Wanner, Christoph, Nordbeck, Peter
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2016
Pynciau:
Genetics and Genomics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4838741/
https://ncbi.nlm.nih.gov/pubmed/27059467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-010422
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