European Journal of Human Genetics - Clinical utility gene card for: Mucopolysaccharidosis type II

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 24 August 2011; doi: 10.1038/ejhg.2011.143
Clinical utility gene card for: Mucopolysaccharidosis type II
Michael Beck1, Frits A Wijburg2 and Andreas Gal3

1Center for Child and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany
2Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
3Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Correspondence: Professor A Gal, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, Hamburg D-20246, Germany. Tel: +49 40 7410 52120; Fax: +49 40 7410 55138; E-mail: gal@uke.de

 Disease characteristics
1.1 Name of the disease (Synonyms)
Mucopolysaccharidosis type II (MPS type II, MPS2, Hunter disease).
1.2 OMIM# of the disease
309900.
1.3 Name of the analysed genes or DNA/chromosome segments
Iduronate 2-sulfatase (IDS).
1.4 OMIM# of the gene(s)
300823.

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European Journal of Human Genetics - Clinical utility gene card for: Mucopolysaccharidosis type II