Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

Lau K, Ueceyler N, Cairns T, Lorenz L, Sommer C, Schindehuette M, Amann KU, Wanner C, Nordbeck P (2022)

Publication Type: Journal article

Publication year: 2022

Journal

Molecular Genetics and Genomic Medicine Wiley

DOI: 10.1002/mgg3.1912

Abstract

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 FD-specific therapy in affected patients and relatives at the time point of presentation or in the future.

Authors with CRIS profile

Kerstin Ute Amann Department of Nephropathology

Involved external institutions

Universitätsklinikum Würzburg DE Germany (DE)

How to cite

APA:

Lau, K., Ueceyler, N., Cairns, T., Lorenz, L., Sommer, C., Schindehuette, M.,... Nordbeck, P. (2022). Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly). Molecular Genetics and Genomic Medicine. https://doi.org/10.1002/mgg3.1912

MLA:

Lau, Kolja, et al. "Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)." Molecular Genetics and Genomic Medicine (2022).

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