A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early diagnosis of both syndromes provides improved treatment and accurate genetic counseling. Whole blood (WB) is the most common DNA source of many me...

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Detalles Bibliográficos
Autores principales: Ferreira, Igor Ribeiro, Costa, Régis Afonso, Gomes, Leonardo Henrique Ferreira, dos Santos Cunha, Wilton Darleans, Tyszler, Latife Salomão, Freitas, Silvia, Llerena Junior, Juan Clinton, de Vasconcelos, Zilton Farias Meira, Nicholls, Robert D., Guida, Letícia da Cunha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7400512/
https://www.ncbi.nlm.nih.gov/pubmed/32747801
http://dx.doi.org/10.1038/s41598-020-69750-0

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