Project: Study of the effect of characterized mutations on the stability of the NF1 transcript and RNA processing, and characterization of novel splice variants in the NF1 gene.
- project duration
- 01-OCT-01 – 30-SEP-03
- This study is focussed on alternative splicing in the NF1-gene. Its aim is the detection quantification and characterization of NF1-transcripts. The mechanism of alternative splicing will be analyzed. This information can give us a better view on the variability of the phenotype and it can reveal possible unknown functions of neurofibromin.