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Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant: Correspondence.

Prateek Kumar PandaIndar Kumar Sharawat
Published in: Indian journal of pediatrics (2020)
Keyphrases
  • early onset
  • copy number
  • genome wide
  • genome wide identification
  • replacement therapy
  • gene expression
  • dna methylation
  • genome wide analysis