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Detection of four novel mutations in the iduronate-2-sulfatase gene

โœ Scribed by Nicola Balzano; Guglielmo R. D. Villani; Michela Grosso; Paola Izzo; Paola Di Natale


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
63 KB
Volume
11
Category
Article
ISSN
1059-7794

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โœฆ Synopsis


Hunter disease, mucopolysaccharidosis type II or MPS II (OMIM *309900) iduronate-2-sulfatase : IDS (GDB) Abbreviations amplification refractory system : ARMS, iduronate-2-sulfatase : IDS


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## Communicated by William S. Sly Hunter disease is an X-linked recessive mucopolysaccharide storage disorder caused by iduronate-2sulfatase deficiency and is rare in females. We describe here findings in a girl with Hunter disease of the severe type. She had a normal karyotype but a marked defici