Article
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
Human molecular genetics - 1 Jul 1994
Purandare S M, Lanyon W G, Connor J M
Abstract excerpt
Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. Mutation analysis in the NF-1 gene is complicated by the large size of the gene, the high mutation rate, and the presence of pseudogenes. By means of the polymerase chain reaction, we have amp...
Topics
- DNA Mutational Analysis
- DNA, Complementary
- Genes, Neurofibromatosis 1
- Humans
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Phenotype
- Polymerase Chain Reaction
- Proteins
- Scotland