The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
Loeffen
J
J
University Hospital Nijmegen, Department of Paediatrics, The Netherlands.
Smeets
R
R
Smeitink
J
J
Ruitenbeek
W
W
Janssen
A
A
Mariman
E
E
Sengers
R
R
Trijbels
F
F
van den Heuvel
L
L
D018076:DNA, Complementary; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics* / Q000378:metabolism; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger; D014018:Tissue Distribution; D014960:X Chromosome
D018076:DNA, Complementary; D012333:RNA, Messenger; D009247:NADH, NADPH Oxidoreductases; D016660:NAD(P)H Dehydrogenase (Quinone); D042967:Electron Transport Complex I