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

Author： Harzer K.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.10, Iss.9, 2001-04, pp. : 927-940

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