Article
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Human mutation - 1 Jun 2005
Santer René, Rischewski Johannes, von Weihe Michaela, Niederhaus Marko, Schneppenheim Sonja, Baerlocher Kurt, Kohlschütter Alfried, Muntau Ania, Posselt Hans-Georg, Steinmann Beat, Schneppenheim Reinhard
Abstract excerpt
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 80 patients from 72 families by means of a PCR-based mutation screening strategy, consisting of heteroduplex analysis, restriction enzyme digest, DNA single strand electrophoresis, and direct sequencing. For a subset of patients mutation screening with DHPLC was established which turned out to be as fast and as sensitive as the more...
Topics
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Europe
- Fructose Intolerance
- Fructose-Bisphosphate Aldolase
- Gene Frequency
- Genotype
- Humans
- Infant, Newborn
- Mutation