Article
Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa.
Lancet (London, England) - 11 May 1991
Sorscher E J, Huang Z
Abstract excerpt
Detection of small alterations or abnormalities in genomic DNA (eg, point mutations or small deletions) has become increasingly important in the diagnosis of genetic disease and polymorphism. When a mutation or polymorphism creates a new restriction endonuclease site, it can easily be identified...
Topics
- Alleles
- Base Sequence
- Blood Proteins
- Calgranulin A
- Chromosome Deletion
- Cystic Fibrosis
- DNA, Single-Stranded
- Evaluation Studies as Topic
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Restriction Mapping
- Retinitis Pigmentosa
- Rhodopsin