Role of RNA in Molecular Diagnosis of MADD Patients

Role of RNA in Molecular Diagnosis of MADD Patients

The electron-transfer flavoprotein dehydrogenase gene (<i>ETFDH</i>) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present the clinical and molecular diagnostic challe...

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Bibliographic Details
Main Authors: Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Biomedicines
Subjects:
glutaric aciduria type II
MADD
β-oxidation
<i>ETFDH</i>
NBS
RNA
Online Access:https://www.mdpi.com/2227-9059/9/5/507

Internet

https://www.mdpi.com/2227-9059/9/5/507

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