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.

Source:http://linkedlifedata.com/resource/pubmed/id/11309366

Hum. Mol. Genet. 2001 Apr 15 10 9 927-40

Download in:

View as

Triples

General Info

PMID
11309366