No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Brain / pathology
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Brain Diseases / genetics*
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Brain Diseases / pathology
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Canavan Disease / genetics
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Canavan Disease / pathology
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Child, Preschool
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Electron Transport Complex I
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Epilepsies, Myoclonic / genetics*
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Epilepsies, Myoclonic / pathology
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Female
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Homozygote
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Humans
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Infant
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Male
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Mitochondria / genetics*
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Molecular Sequence Data
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Mutation, Missense*
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NAD(P)H Dehydrogenase (Quinone) / deficiency
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NAD(P)H Dehydrogenase (Quinone) / genetics
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NADH Dehydrogenase
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Pedigree
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Pregnancy
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Proteins / genetics*
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Proteins / metabolism
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Sequence Homology, Amino Acid
Substances
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NDUFV1 protein, human
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Proteins
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NAD(P)H Dehydrogenase (Quinone)
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NADH Dehydrogenase
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Electron Transport Complex I
Associated data
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GENBANK/AE000317
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GENBANK/AF053070
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GENBANK/M58607
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GENBANK/X64402
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GENBANK/X83999
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GENBANK/Z50109