A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

BACKGROUND: Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in paternal allele causes PWS while the absence in mater...

Descripción completa

Detalles Bibliográficos
Autores principales: Ribeiro Ferreira, Igor, Darleans dos Santos Cunha, Wilton, Henrique Ferreira Gomes, Leonardo, Azevedo Cintra, Hiago, Lopes Cabral Guimarães Fonseca, Letícia, Ferreira Bastos, Elenice, Clinton Llerena, Juan, Farias Meira de Vasconcelos, Zilton, da Cunha Guida, Letícia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565559/
https://www.ncbi.nlm.nih.gov/pubmed/31033246
http://dx.doi.org/10.1002/mgg3.637

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565559/
https://www.ncbi.nlm.nih.gov/pubmed/31033246
http://dx.doi.org/10.1002/mgg3.637

Ejemplares similares