Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
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| Description | scientific article |
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author: Raúl E Piña-Aguilar Yuritzi Santillán-Hernández Miguel Angel Alcántara-Ortigoza |
| Publication date | December 8, 2012 |
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| Missing/wrong data? | Edit Wikidata item |