Article
X-chromosome inactivation in female patients with Fabry disease.
Clinical genetics - 1 Jan 2016
Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege A A, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain D P
Abstract excerpt
Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X-chromosome inactivation (XCI) in females...
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