Article
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
American journal of human genetics - 1 Apr 1993
Brooks C C, Tolan D R
Abstract excerpt
Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease resulting from the catalytic deficiency of fructose 1-phosphate aldolase (aldolase B) in fructose-metabolizing tissues. The A149P mutation in exon 5 of the aldolase B gene, located on chromosome 9q21.3-q22.2,...
Topics
- Autoradiography
- Base Sequence
- Chi-Square Distribution
- Chromosomes, Human, Pair 9
- Cloning, Molecular
- DNA Mutational Analysis
- Electrophoresis, Gel, Pulsed-Field
- Fructose Intolerance
- Fructose-Bisphosphate Aldolase
- Gene Frequency
- Genetic Markers
- Humans
- Linkage Disequilibrium
- Meiosis
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree