Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Schuelke, M; Smeitink, J; Mariman, E; Loeffen, J; Plecko, B; Trijbels, F; Stöckler-Ipsiroglu, S; van den Heuvel, L.
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Nat Genet. 1999; 21(3):260-261
Doi: 10.1038/6772
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- Amino Acid Sequence -
- Brain - pathology
- Brain Diseases - genetics
- Brain Diseases - pathology
- Canavan Disease - genetics
- Canavan Disease - pathology
- Child, Preschool -
- Epilepsies, Myoclonic - genetics
- Epilepsies, Myoclonic - pathology
- Female -
- Homozygote -
- Humans -
- Infant -
- Male -
- Mitochondria - genetics
- Molecular Sequence Data -
- Mutation, Missense -
- NAD(P)H Dehydrogenase (Quinone) - deficiency
- NAD(P)H Dehydrogenase (Quinone) - genetics
- NADH Dehydrogenase -
- Pedigree -
- Pregnancy -
- Proteins - genetics
- Proteins - metabolism
- Sequence Homology, Amino Acid -