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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