Article
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
International heart journal - 31 May 2017
Csányi Beáta, Hategan Lidia, Nagy Viktória, Obál Izabella, Varga Edina T, Borbás János, Tringer Annamária, Eichler Sabrina, Forster Tamás, Rolfs Arndt, Sepp Róbert
Abstract excerpt
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. A 69 year-old female index...
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