IEEE Trans Vis Comput Graph
July 2024
Journalism has become more data-driven and inherently visual in recent years. Photographs, illustrations, infographics, data visualizations, and general images help convey complex topics to a wide audience. The way that visual artifacts influence how readers form an opinion beyond the text is an important issue to research, but there are few works about this topic.
View Article and Find Full Text PDFIn 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.
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