Abstract
Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to R282), and a 16 bp insertion (CAGTGGATCAAGTTTA), causing a frameshift starting with lysine 358 and resulting in decrease of both E1 subunits.
Publication types
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Case Reports
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Cells, Cultured
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Child, Preschool
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Fibroblasts / enzymology
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Frameshift Mutation*
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Humans
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Infant, Newborn
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Male
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Point Mutation*
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Pyruvate Dehydrogenase Complex / chemistry
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Pyruvate Dehydrogenase Complex / genetics*
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Pyruvate Dehydrogenase Complex / metabolism
Substances
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Pyruvate Dehydrogenase Complex