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Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif

BACKGROUND: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is an autosomal recessive disease caused by the defects in the mitochondrial electron transfer system and the metabolism of fatty acids. Recently, mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene, encoding ele...

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Detalles Bibliográficos
Autores principales: Er, Tze-Kiong, Chen, Chih-Chieh, Liu, Yen-Yi, Chang, Hui-Chiu, Chien, Yin-Hsiu, Chang, Jan-Gowth, Hwang, Jenn-Kang, Jong, Yuh-Jyh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209457/
https://www.ncbi.nlm.nih.gov/pubmed/22013910
http://dx.doi.org/10.1186/1472-6807-11-43