Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

BACKGROUND: Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The estab...

Descripción completa

Detalles Bibliográficos
Autores principales: Serebrinsky, G., Calvo, M., Fernandez, S., Saito, S., Ohno, K., Wallace, E., Warnock, D., Sakuraba, H., Politei, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750630/
https://www.ncbi.nlm.nih.gov/pubmed/26937405
http://dx.doi.org/10.1016/j.ymgmr.2015.05.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750630/
https://www.ncbi.nlm.nih.gov/pubmed/26937405
http://dx.doi.org/10.1016/j.ymgmr.2015.05.006

Ejemplares similares