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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Angelman syndrome
high‐resolution melting
MS‐HRM
MS‐PCR
Prader Willi syndrome
Online Access:https://doi.org/10.1002/mgg3.637

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