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Results: 1-2 |
Results: 2
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Authors: Hulkova, H Cervenkova, M Ledvinova, J Tochackova, M Hrebicek, M Poupetova, H Befekadu, A Berna, L Paton, BC Harzer, K Boor, A Smid, F Elleder, M
Citation: H. Hulkova et al., A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation, HUM MOL GEN, 10(9), 2001, pp. 927-940
Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: Mutation profile and description of six novel mutant alleles
Authors: Hodanova, K Hrebicek, M Cervenkova, M Mrazova, L Veprekova, L Zeman, J
Citation: K. Hodanova et al., Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: Mutation profile and description of six novel mutant alleles, BL CELL M D, 25(18), 1999, pp. 287-298
Risultati: 1-2 |