Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
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J. Ivanovich | L. Cartegni | R. Steiner | K. Sandhoff | G. Lueder | B. Wicklow | M. Kaback | M. Noetzel | B. Triggs-Raine | T. Salo | M. Plews | Margot Plews