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={D. Tolan},
  journal={Human Mutation},
  year={1995},
  volume={6}
}
  • D. Tolan
  • Published 1995
  • Biology, Medicine
  • Human Mutation
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… Expand
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References

SHOWING 1-10 OF 54 REFERENCES
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
  • 16
  • PDF
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
  • 18
  • PDF
A partially active mutant aldolase B from a patient with hereditary fructose intolerance
  • C. C. Brooks, D. Tolan
  • Biology, Medicine
  • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 1994
  • 16
Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
  • 25
Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans.
  • 27
Partial aldolase B gene deletions in hereditary fructose intolerance.
  • N. Cross, T. Cox
  • Biology, Medicine
  • American journal of human genetics
  • 1990
  • 27
...
1
2
3
4
5
...