Citations for
1CIA30D, NDUFAF1
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S.
J Med Genet 48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. 2011
2CIA30D,NDUFAF1
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT.
EMBO J 26(13):3227-37. Epub 2007 Jun 7. 2007