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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
Vaccaro, A. M., Motta, M., Tatti, M., Scarpa, S., Masuelli, L., Bhat, M., Vanier, M. T., Tylki-Szymanska, A., Salvioli, R.Volume:
19
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddq204
Date:
August, 2010
File:
PDF, 466 KB
english, 2010