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

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...

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Bibliographic Details
Main Authors: G. Serebrinsky, M. Calvo, S. Fernandez, S. Saito, K. Ohno, E. Wallace, D. Warnock, H. Sakuraba, J. Politei
Format: Article
Language:English
Published: Elsevier 2015-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
GLA variants
Late onset variants
Lyso-Gb3
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300136

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http://www.sciencedirect.com/science/article/pii/S2214426915300136

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