Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Raul E. Piña-Aguilar, Gerardo R. Zaragoza-Arévalo, Isabella Rau, Andreas Gal, Miguel A. Alcántara-Ortigoza, Mónica S. López-Martínez, Yuritzi Santillán-Hernández*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

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Medicine & Life Sciences