DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Motta M, Camerini S, Tatti M. , et al.
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Hum Mol Genet 2014;
23 (21) 5814-5826
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