Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome affecting the nervous system. The disease is one of the most common autosomal dominant diseases in all ethnic groups. Although the gene was mapped to human chromosome 17 and isolated in 1990, the detection of NF1 mutation is still considered to be a challenge as the gene is large and contains multiple exons. Here we report the detection of...

Topics

• DNA Mutational Analysis
• Genes, Neurofibromatosis 1
• Humans
• Molecular Sequence Data
• Mutation
• Neurofibromatosis 1
• Sequence Deletion
• Taiwan