Literature DB >> 16770800

Further cases of "neighbor" mutations in mucopolysaccharidosis type II.

Ida V D Schwartz1, Luciane C Lima, Karen Tylee, Ruy P Oliveira Sobrinho, Denise Y J Norato, Andréa R Duarte, Guy Besley, Maira G Burin, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal.   

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Year:  2006        PMID： 16770800     DOI： 10.1002/ajmg.a.31317

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

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

Authors:  H Amartino; R Ceci; F Masllorens; A Gal; C Arberas; L Bay; R Ilari; J Dipierri; N Specola; A Cabrera; P Rozenfeld
Journal:  Mol Genet Metab Rep       Date:  2014-09-17

Review 2.  Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Authors:  Filippo Vairo; Andressa Federhen; Guilherme Baldo; Mariluce Riegel; Maira Burin; Sandra Leistner-Segal; Roberto Giugliani
Journal:  Appl Clin Genet       Date:  2015-10-30
  2 in total

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