Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Abstract excerpt

The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We have analysed 38 patients for mutations in exon 4 of the NF1 gene, and found one patient with a C----T transition at...

Topics

• Amino Acid Sequence
• Base Sequence
• Chromosomes, Human, Pair 17
• Codon
• Exons
• Female
• Genes, Neurofibromatosis 1
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Neurofibromatosis 1