Browsing by Author "Cunha, Wilton Darleans dos Santos"
Now showing items 1-2 of 2
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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Ferreira, Igor Ribeiro et al. | Date Issued: 2020 -
A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
Ferreira, Igor Ribeiro et al. | Date Issued: 2019Fundo: As síndromes de Prader Willi (PWS) e Angelman (AS) são raros distúrbios genéticos caracterizados por deleções, disomias uniparentais e defeitos de impressão no cromossomo 15. A perda de função de genes específicos ...