X‐chromosomal inactivation patterns in women with Fabry disease

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. PATIENTS...

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Detalles Bibliográficos
Autores principales: Wagenhäuser, Laura, Rickert, Vanessa, Sommer, Claudia, Wanner, Christoph, Nordbeck, Peter, Rost, Simone, Üçeyler, Nurcan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482401/
https://www.ncbi.nlm.nih.gov/pubmed/35971858
http://dx.doi.org/10.1002/mgg3.2029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482401/
https://www.ncbi.nlm.nih.gov/pubmed/35971858
http://dx.doi.org/10.1002/mgg3.2029

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