Article
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Proteins - 1 Jan 2015
Riera Casandra, Lois Sergio, Domínguez Carmen, Fernandez-Cadenas Israel, Montaner Joan, Rodríguez-Sureda Victor, de la Cruz Xavier
Abstract excerpt
Loss-of-function mutations of the enzyme alpha-galactosidase A (GLA) causes Fabry disease (FD), that is a rare and potentially fatal disease. Identification of these pathological mutations by sequencing is important because it allows an early treatment of the disease. However, before taking any treatment decision, if the mutation identified is unknown, we first need to establish if it is pathological or not....
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