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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

  • Ridout, C, Brown, R, Walter, J, et al.
  • 2008-01-01
2
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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

  • Brown, R, Head, R, Boubriak, I, et al.
  • 2004-01-01
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