DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Hulková H, Cervenková M, Ledvinová J. , 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 Genet 2001;
10 (09) 927-940
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