Article
Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene.
Mutation research - 3 Feb 1997
Rodenhiser D I, Andrews J D, Mancini D N, Jung J H, Singh S M
Abstract excerpt
Neurofibromatosis type 1 (NF1) is among the most common human genetic disorders, having a constellation of cutaneous and skeletal manifestations, intellectual impairment, and an increased risk for a variety of malignancies. The NF1 gene has a high spontaneous mutation rate and is also associated...
Topics
- Base Sequence
- CpG Islands
- Genes, Neurofibromatosis 1
- Mutation
- Sequence Deletion
- Trinucleotide Repeats