Article
Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry.
Clinical chemistry - 1 Jul 1997
Braun A, Little D P, Köster H
Abstract excerpt
A new method for the reliable identification of localized variations in DNA by detection of associated diagnostic products with matrix-assisted laser desorption ionization time-of-flight mass spectrometry is described. The diagnostic products are generated by the primer oligo base extension (PROB...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Deoxyribonucleotides
- Dideoxynucleosides
- Exons
- Humans
- Introns
- Mass Spectrometry
- Molecular Sequence Data
- Mutation
- RNA Splicing