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,...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Front Genet
Autores principales: 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
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2015
Materias:
Genetics
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares