Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
Ramos-Arroyo
M A
MA
Hualde
J
J
Ayechu
A
A
De Meirleir
L
L
Seneca
S
S
Nadal
N
N
Briones
P
P
D000074183:ATPases Associated with Diverse Cellular Activities; D000140:Acidosis, Lactic / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D014450:Electron Transport Complex III / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics; D017093:Liver Failure / Q000150:complications / Q000235:genetics; D008297:Male; D009154:Mutation; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics
C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III