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

Abstract 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...

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Autors principals:	Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, Letícia daCunha Guida
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2019-06-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Angelman syndrome high‐resolution melting MS‐HRM MS‐PCR Prader Willi syndrome
Accés en línia:	https://doi.org/10.1002/mgg3.637
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