Article
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Molecular genetics and metabolism - 1 Feb 2014
Brusius-Facchin A C, Schwartz I V D, Zimmer C, Ribeiro M G, Acosta A X, Horovitz D, Monlleó I L, Fontes M I B, Fett-Conte A, Sobrinho R P Oliveira, Duarte A R, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee K L, Besley G T N, Garreton M C V, Giugliani R, Leistner-Segal S
Abstract excerpt
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and...
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