Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

Author： Vaccaro Anna M.   Motta Marialetizia   Tatti Massimo   Scarpa Susanna   Masuelli Laura   Bhat Meenakshi   Vanier Marie T.   Tylki-Szymanska Anna   Salvioli Rosa  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.19, Iss.15, 2010-08, pp. : 2987-2997

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