Fol. Biol. 2016, 62, 82-89

https://doi.org/10.14712/fb2016062020082

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

M. Řeboun1, J. Rybová1, R. Dobrovolný1, J. Včelák2, T. Veselková1, G. Štorkánová1, D. Mušálková1, M. Hřebíček1, J. Ledvinová1, M. Magner3, J. Zeman3, K. Pešková1, Lenka Dvořáková1

1Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Institute of Endocrinology, Prague, Czech Republic
3Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic

Received December 2015
Accepted February 2016

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