DOI:
10.1055/s-00029025
Journal of Pediatric Epilepsy
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References
Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA.
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
Hum Mutat 2004;
23 (1) 32-39
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