Role of RNA in Molecular Diagnosis of MADD Patients

The electron-transfer flavoprotein dehydrogenase gene (ETFDH) 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 challenges, at the DNA an...

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Detalles Bibliográficos
Autores principales: Nogueira, Célia, Silva, Lisbeth, Marcão, Ana, Sousa, Carmen, Fonseca, Helena, Rocha, Hugo, Campos, Teresa, Teles, Elisa Leão, Rodrigues, Esmeralda, Janeiro, Patrícia, Gaspar, Ana, Vilarinho, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147995/
https://www.ncbi.nlm.nih.gov/pubmed/34064479
http://dx.doi.org/10.3390/biomedicines9050507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147995/
https://www.ncbi.nlm.nih.gov/pubmed/34064479
http://dx.doi.org/10.3390/biomedicines9050507

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