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Título:
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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients
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Autores:
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Brusius-Facchin, A. C. ;
Schwartz, I. V. D. ;
Zimmer, C. ;
Ribeiro, M. G. ;
Acosta, A. X. ;
Horovitz, D. ;
Monlleo, 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.
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Tipo de documento:
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texto impreso
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Editorial:
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Elsevier, 2020-06-10T18:12:14Z
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Nota general:
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info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Idiomas:
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Inglés
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Palabras clave:
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Editados por otras instituciones
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Artículos
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Artículos en revistas indizadas
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Resumen:
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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 screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (
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En línea:
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http://doi.org/10.1016/j.ymgme.2013.08.011
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