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

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

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...

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Bibliographic Details
Main Authors: Kolja Lau, Nurcan Üçeyler, Tereza Cairns, Lora Lorenz, Claudia Sommer, Magnus Schindehütte, Kerstin Amann, Christoph Wanner, Peter Nordbeck
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
diagnosis in Fabry disease
Fabry disease
gene variant
genotype/phenotype correlation
lysosomal storage disease
Online Access:https://doi.org/10.1002/mgg3.1912

Internet

https://doi.org/10.1002/mgg3.1912

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