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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2015
Assuntos:
Genetics
Acesso em linha: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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