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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

✍ Scribed by Lloyd-Evans, Emyr; Morgan, Anthony J; He, Xingxuan; Smith, David A; Elliot-Smith, Elena; Sillence, Daniel J; Churchill, Grant C; Schuchman, Edward H; Galione, Antony; Platt, Frances M


Book ID
109926121
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
646 KB
Volume
14
Category
Article
ISSN
1078-8956

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A point mutation in the lariat branch po
✍ Enza Di Leo; Francesca Panico; Patrizia Tarugi; Carla Battisti; Antonio Federico πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 406 KB πŸ‘ 1 views

The lariat branch point sequence (BPS) is crucial for splicing pre-mRNA even if BPS mutations have infrequently been reported in human disease. In two siblings with Niemann-Pick type C (NPC) disease we identified two mutations of the NPC1 gene: i) one in exon 20 (c.2932C>T) (p.R978C) previously repo