Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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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 (- Case Report)
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Autor/innen der Med Uni Graz:
Plecko Barbara
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Find related publications in this database (using NLM MeSH Indexing)
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 -

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