Danhauser, K.

patient ndufa mutation mitochondrial leigh syndrome disease protein ficiency ndufa 9 genet subunit leigh fi broblasts syndrome analysis cause broblast identi identi fied patient fi broblasts control i activity article disorder type ndufa 9 homozygosity mapping candidate gene analysis candidate oxpho activity mapping smeitink ja prokisch h genetic mitochondrial disease amount homozygosity complementation method approach sequencing 15. smeitink ndufa 9 gene erasmus mc zeviani m defect thorburn dr netherland jmg.bmj.com system position 321 structure smeet heuvel department mtdna function ndufb region prokisch downloaded assembly group.bmj.com march brain wild-type ndufa 9 position gerard core subunits fi ndings mitochondrial dna mutations maastricht university ndufa 9. identi fication nduaf 9 mutation p.r 321p mutation bosch mutation analysis mootha vk