Article
Systematic use of automated fluorescence-based sequence analysis of amplified genomic DNA for rapid detection of point mutations.
American journal of hematology - 1 Jun 1994
Tamary H, Surrey S, Kirschmann H, Shalmon L, Zaizov R, Schwartz E, Rappaport E F
Abstract excerpt
Several approaches are now available for screening populations for known mutations in a given gene. However, for detection of multiple mutations in a population that has not been characterized or for detection of new mutations, the value and efficiency of these screening procedures decreases. Although more than 100 different beta-thalassemia mutations have so far been described, the spectrum of mutations in the...
Topics
- Automation
- Base Sequence
- DNA Primers
- Frameshift Mutation
- Genes
- Globins
- Humans
- Molecular Sequence Data
- Mutation
- Point Mutation
- beta-Thalassemia