Article
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
Human mutation - 1 Jun 2004
De Luca Alessandro, Schirinzi Annalisa, Buccino Anna, Bottillo Irene, Sinibaldi Lorenzo, Torrente Isabella, Ciavarella Angela, Dottorini Tania, Porciello Roberto, Giustini Sandra, Calvieri Stefano, Dallapiccola Bruno
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans, affecting 1 in 3500 individuals. NF1 is a fully penetrant exhibiting a mutation rate some 10-fold higher compared to most other disease genes. As a consequence, a high number of cases (up to 50%) are sporadic. Mutation detection is complex due to the large size of NF1 gene, the presence of pseudogenes and the great...
Topics
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Female
- Humans
- Italy
- Male
- Models, Molecular
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Polymorphism, Genetic
- Protein Conformation
- RNA Splice Sites