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Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

  • Brandy A. Wicklow
  • , Jennifer L. Ivanovich
  • , Margot M. Plews
  • , Timothy J. Salo
  • , Michael J. Noetzel
  • , Gregg T. Lueder
  • , Luca Cartegni
  • , Miehael M. Kaback
  • , Konrad Sandhoff
  • , Robert D. Steiner
  • , Barbara L. Triggs-Raine

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology

Neuroscience