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Q36994535-391BA941-FC5D-4E44-8063-2DDEF5D4D628
Q36994535-391BA941-FC5D-4E44-8063-2DDEF5D4D628
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Statement
http://www.wikidata.org/entity/statement/Q36994535-391BA941-FC5D-4E44-8063-2DDEF5D4D628
The function of sphingolipids in the nervous system: lessons learnt from mouse models of specific sphingolipid activator protein deficiencies.
P2860
Q36994535-391BA941-FC5D-4E44-8063-2DDEF5D4D628
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36994535-391BA941-FC5D-4E44-8063-2DDEF5D4D628
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2ab18ef16b62dda570c5284d0632a2a27b3faea8
P2860
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.