Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Author:

Amartino H.,Ceci R.,Masllorens F.,Gal A.,Arberas C.,Bay L.,Ilari R.,Dipierri J.,Specola N.,Cabrera A.,Rozenfeld P.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference16 articles.

1. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy;Wraith;Eur. J. Pediatr.,2008

2. Mucopolysaccharidosis type II: an update on mutations spectrum;Froissart;Acta Paediatr.,2007

3. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome);Li;J. Med. Genet.,1999

4. Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome;Lagerstedt;Hum. Mol. Genet.,1997

5. Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene;Jonsson;Am. J. Hum. Genet.,1995

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