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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |
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