Article
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
Human genetics - 1 May 1997
Maynard J, Krawczak M, Upadhyaya M
Abstract excerpt
Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. These lesions include three nonsense and two missense mutations, two deletions, one duplication, and one mutation in the 5' splice site of intron 16. Although exon 16 is the largest NF1 exon, no mutations have so far been reported in this region. This apparent...
Topics
- Bias
- DNA Transposable Elements
- Exons
- Genes, Neurofibromatosis 1
- Humans
- Mutation
- Neurofibromatosis 1
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Reference Values
- Restriction Mapping
- Sequence Deletion
- Transcription, Genetic