Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
✍ Scribed by Eva Pros; Juana Fernández-Rodríguez; Belén Canet; Llúcia Benito; Aurora Sánchez; Ana Benavides; Feliciano J. Ramos; María Asunción López-Ariztegui; Gabriel Capellá; Ignacio Blanco; Eduard Serra; Conxi Lázaro
- Book ID
- 102263867
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 427 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
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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