Article
Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).
Molecular genetics & genomic medicine - 1 May 2022
Lau Kolja, Üçeyler Nurcan, Cairns Tereza, Lorenz Lora, Sommer Claudia, Schindehütte Magnus, Amann Kerstin, Wanner Christoph, Nordbeck Peter
Abstract excerpt
BACKGROUND: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder with varying organ involvement and symptoms, depending on the underlying mutation in the alpha-galactosidase A gene (HGNC: GLA). With genetic testing becoming more readily available, it is crucial to precisely evaluate pathogenicity of each genetic variant, in order to determine whether there is or might be not a need for...
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