A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)
✍ Scribed by Souza, Fernanda; Bock, Hugo; Melo, Suelen; Bohn, Evelize; Silveira, Barbara; Brites, Adriana; Rafaelli, Célio; Burin, Maira; Michelin-Tirelli, Kristiane; Polese, Marcia; Saraiva-Pereira, Maria Luiza; Giugliani, Roberto
- Book ID
- 122813746
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 68 KB
- Volume
- 108
- Category
- Article
- ISSN
- 1096-7192
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Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o
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