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Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene

✍ Scribed by Lewis O. Maddox; Peining Li; Amy Bennett; Maria Descartes; Jerry N. Thompson


Book ID
111742619
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
873 KB
Volume
43
Category
Article
ISSN
1521-6543

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Molecular analysis of 40 Italian patient
✍ Mirella Filocamo; Gloria Bonuccelli; Fabio Corsolini; Raffaella Mazzotti; Robert πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 1 views

Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot