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85. Substrate reduction therapy in the treatment of neurolipidoses: Niemann–Pick type C as a paradigm

✍ Scribed by Charles Lourenço; Jose Simon Camelo Jr; Vanessa Van der Linden; Mara Lucia Santos; Regina Albuquerque; Marlene Turcato; Erlane Ribeiro; Wilson Marques Jr


Book ID
116988822
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
43 KB
Volume
99
Category
Article
ISSN
1096-7192

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A point mutation in the lariat branch po
✍ Enza Di Leo; Francesca Panico; Patrizia Tarugi; Carla Battisti; Antonio Federico 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB 👁 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