Article
X-chromosomal inactivation patterns in women with Fabry disease.
Molecular genetics & genomic medicine - 1 Sept 2022
Wagenhäuser Laura, Rickert Vanessa, Sommer Claudia, Wanner Christoph, Nordbeck Peter, Rost Simone, Üçeyler Nurcan
Abstract excerpt
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 AND METHODS: We included 95 women with mutations in GLA (n = 18 with variants of unknown pathogenicity) and 50...
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