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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
- Authors :
- Wicklow, B. A.
Ivanovich, J. L.
Plews, M. M.
Salo, T. J.
Noetzel, M. J.
Lueder, G. T.
Cartegni, L.
Kaback, M. M.
Sandhoff, K.
Steiner, R. D.
Barbara Triggs-Raine
- Source :
- Scopus-Elsevier
Details
- Database :
- OpenAIRE
- Journal :
- Scopus-Elsevier
- Accession number :
- edsair.dedup.wf.001..e5f5a6be4d17e9eacc7085647db0c966