Article
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Human mutation - 1 Mar 2009
Pros Eva, Fernández-Rodríguez Juana, Canet Belén, Benito Llúcia, Sánchez Aurora, Benavides Ana, Ramos Feliciano J, López-Ariztegui María Asunción, Capellá Gabriel, Blanco Ignacio, Serra Eduard, Lázaro Conxi
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1:3,500 individuals. Disease expression is highly variable and complications are diverse. However, currently there is no specific treatment for the disease. NF1 is caused by mutations in the NF1 gene, approximately 2.1% of constitutional mutations identified in our population are deep intronic mutations producing the insertion of a cryptic...
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