Article
Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system.
Molecular human reproduction - 1 Mar 1996
Scobie G, Woodroffe B, Fishel S, Kalsheker N
Abstract excerpt
We describe a rapid and specific differential amplification system which can detect five of the most common cystic fibrosis mutations from a single cell. In the first round of the polymerase chain reaction (PCR), regions of exons 4, 10 and 11 of the cystic fibrosis transmembrane conductance regul...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Fingerprinting
- DNA Primers
- Heterozygote
- Homozygote
- Humans
- Mutation
- Polymerase Chain Reaction
- Sensitivity and Specificity
- Tyrosine 3-Monooxygenase