Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron–sulfur (Fe–S) cluster biosynthesis, with defects in 13 genes being linked to human disease to date. Mutations in three of them,...

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Udgivet i:Front Genet
Main Authors: Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2015
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4394698/
https://ncbi.nlm.nih.gov/pubmed/25918518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00123
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