Article
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation - 1 Jan 1997
Abernathy C R, Rasmussen S A, Stalker H J, Zori R, Driscoll D J, Williams C A, Kousseff B G, Wallace M R
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized predominantly by neurofibromas, café-au-lait spots, and Lisch nodules. The disease is caused by disruptive mutations of the large NF1 gene, with half of cases caused by new mutation. Less than 100 constitutional...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Exons
- Genes, Neurofibromatosis 1
- Genetic Variation
- Genotype
- Humans
- Neurofibromatosis 1
- Nucleic Acid Heteroduplexes
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion