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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Serebrinsky, G., Calvo, M., Fernandez, S., Saito, S., Ohno, K., Wallace, E., Warnock, D., Sakuraba, H., Politei, J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2015
Aiheet:
Research Paper
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750630/
https://ncbi.nlm.nih.gov/pubmed/26937405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.05.006
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