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Article

X-inactivation in Fabry disease.

Gene - 1 Sept 2012

Elstein Deborah, Schachamorov Ella, Beeri Rachel, Altarescu Gheona

Abstract excerpt

BACKGROUND: Fabry disease is one of three X-linked lysosomal disorders. Because of X-chromosome inactivation (XCI), wherein there is (random) transcriptional silencing of one of the X-chromosomes in each female cell, females are mosaic for the expression of (some) X-linked genes. Thus, based on penetrance and expression, some females heterozygous for Fabry disease are symptomatic but not to the same degree as...

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PMID: 22710134
DOI: 10.1016/j.gene.2012.06.013

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