No abstract available
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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Binding Sites
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Biopsy
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Cells, Cultured
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DNA, Complementary / chemistry
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Fibroblasts / chemistry
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Fibroblasts / enzymology
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Humans
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Immunoblotting
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Infant
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Male
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Molecular Sequence Data
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / enzymology
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Myocardium / chemistry
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Myocardium / enzymology
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Point Mutation*
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Polymerase Chain Reaction
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Pyruvate Dehydrogenase Complex / chemistry
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Pyruvate Dehydrogenase Complex / genetics*
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Pyruvate Dehydrogenase Complex / metabolism
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Pyruvate Dehydrogenase Complex Deficiency Disease / etiology
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Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
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RNA, Messenger / analysis
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Sequence Analysis, DNA
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Skin / cytology
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Thiamine Pyrophosphate / metabolism*
Substances
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DNA, Complementary
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Pyruvate Dehydrogenase Complex
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RNA, Messenger
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Thiamine Pyrophosphate