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

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...

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Detalles Bibliográficos
Autores principales: Lau, Kolja, Üçeyler, Nurcan, Cairns, Tereza, Lorenz, Lora, Sommer, Claudia, Schindehütte, Magnus, Amann, Kerstin, Wanner, Christoph, Nordbeck, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034661/
https://www.ncbi.nlm.nih.gov/pubmed/35212486
http://dx.doi.org/10.1002/mgg3.1912

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034661/
https://www.ncbi.nlm.nih.gov/pubmed/35212486
http://dx.doi.org/10.1002/mgg3.1912

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