Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.

@article{Tolan1995MolecularBO,
  title={Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.},
  author={Dean R. Tolan},
  journal={Human mutation},
  year={1995},
  volume={6 3},
  pages={210-8}
}
Mutations in the human aldolase B gene that result in hereditary fructose intolerance have been characterized extensively. Although the majority of subjects have been from northern Europe, subjects from other geographical regions and ethnic groups have been identified. At present 21 mutations have been reported; 15 of these are single base substitutions, resulting in nine amino acid replacements, four nonsense codons, and two putative splicing defects. Two large deletions, two four-base… CONTINUE READING