Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). [electronic resource]

By: Contributor(s): Producer: 20140911Description: 56-60 p. digitalISSN:
  • 1439-1899
Subject(s): Online resources: In: Neuropediatrics vol. 45
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Publication Type: Case Reports; Journal Article

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