Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study

Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). However, due to scarce data, clinical implications remain limited. The aim of the present s...

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Detalles Bibliográficos
Autores principales: Oder, Daniel, Liu, Dan, Üçeyler, Nurcan, Sommer, Claudia, Hu, Kai, Salinger, Tim, Müntze, Jonas, Petritsch, Bernhard, Ertl, Georg, Wanner, Christoph, Nordbeck, Peter, Weidemann, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392711/
https://www.ncbi.nlm.nih.gov/pubmed/29794742
http://dx.doi.org/10.1097/MD.0000000000010669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392711/
https://www.ncbi.nlm.nih.gov/pubmed/29794742
http://dx.doi.org/10.1097/MD.0000000000010669

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