Article
Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.
Human mutation - 1 Jan 1995
Dublin S, Riccardi V M, Stephens K
Abstract excerpt
We have developed a rapid screening method to detect a recurrent mutation in the neurofibromatosis type 1 gene. Using gene amplification and hybridization with allele-specific oligonucleotides, we screened 97 unrelated affected individuals for the recurrent C-->T substitution in codon 1947. The m...
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- DNA Primers
- Female
- Genes, Neurofibromatosis 1
- Humans
- Male
- Molecular Sequence Data
- Neurofibromatosis 1
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction