Article
A de novo Alu insertion results in neurofibromatosis type 1.
Nature - 31 Oct 1991
Wallace M R, Andersen L B, Saulino A M, Gregory P E, Glover T W, Collins F S
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with a high mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, Lisch nodules of the iris, and less frequent features including bone deformities and learning disabilities. The recently cloned NF1 gene encodes a transcript of 13 kilobases from a ubiquitously expressed locus on chromosome 17. Most NF1...
Topics
- Adult
- Alleles
- Base Sequence
- DNA Transposable Elements
- Exons
- Genes, Neurofibromatosis 1
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Insertional
- Neurofibromatosis 1
- Oligodeoxyribonucleotides