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Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

✍ Scribed by Brusius-Facchin, Ana Carolina; Abrahão, Luiza; Schwartz, Ida Vanessa Doederlein; Lourenço, Charles Marques; Santos, Emerson Santana; Zanetti, Alessandra; Tomanin, Rosella; Scarpa, Maurizio; Giugliani, Roberto; Leistner-Segal, Sandra

Book ID: 120452779
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 802 KB
Volume: 526
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.05.007

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Molecular analysis of 40 Italian patient

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene

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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