X‐chromosomal inactivation patterns in women with Fabry disease

X‐chromosomal inactivation patterns in women with Fabry disease

Abstract Background Although Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the α‐galactosidase A gene (GLA), women may develop severe symptoms. We investigated X‐chromosomal inactivation patterns (XCI) as a potential determinant of symptom severity in FD women....

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Bibliographic Details
Main Authors: Laura Wagenhäuser, Vanessa Rickert, Claudia Sommer, Christoph Wanner, Peter Nordbeck, Simone Rost, Nurcan Üçeyler
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Fabry disease
Fabry genotype
Fabry phenotype
female Fabry patients
X‐chromosomal inactivation
Online Access:https://doi.org/10.1002/mgg3.2029

Internet

https://doi.org/10.1002/mgg3.2029

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