DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Plante M, Claveau S, Lepage P. , et al.
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Clin Genet 2008;
73 (03) 236-244
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