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
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