Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Autor: Cameron, Jessie M., Janer, Alexandre, Levandovskiy, Valeriy, MacKay, Nevena, Rouault, Tracey A., Tong, Wing-Hang, Ogilvie, Isla, Shoubridge, Eric A., Robinson, Brian H.
Zdroj: In The American Journal of Human Genetics 2011 89(4):486-495
Databáze: ScienceDirect