Identification of a mutation that perturbs <i>NF1</i> agene splicing using genomic DNA samples and a minigene assay

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disease. In recent studies on the neurofibromatosis type 1 (NF1) gene neurofibromin, splicing abnormalities were seen in 30-50% of cases when RNA taken from cell lines was analysed.1,2 Unlike mutations that alter critical amino acids or generate premature stop codons, splicing abnormalities can be very hard to predict from sequence analysis...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurofibromatosis and Schwannoma Cases
• Share to Sarcoma Diagnosis and Treatment
• Share to Soft tissue tumors and treatment