Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation
Piña-Aguilar, Raul E., Zaragoza-Arévalo, Gerardo R., Rau, Isabella, Gal, Andreas, Alcántara-Ortigoza, Miguel A., López-Martínez, Mónica S., Santillán-Hernández, YuritziVolume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2012.11.006
Date:
March, 2013
File:
PDF, 357 KB
english, 2013