Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation

@article{Cross1988CatalyticDO,
  title={Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation},
  author={N. Cross and D. Tolan and T. Cox},
  journal={Cell},
  year={1988},
  volume={53},
  pages={881-885}
}
Hereditary fructose intolerance (HFI) is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars. We report here the first identification of a molecular lesion in the aldolase B gene of an affected individual whose defective protein has previously been characterized. The mutation is a G----C transversion in exon 5 that creates a new recognition site for the restriction enzyme Ahall and results in an amino… Expand
74 Citations
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
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
  • 18
  • PDF
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
  • 16
  • PDF
Partial aldolase B gene deletions in hereditary fructose intolerance.
  • N. Cross, T. Cox
  • Biology, Medicine
  • American journal of human genetics
  • 1990
  • 27
Hereditary fructose intolerance.
  • 66
  • PDF
Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
  • 4
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 31 REFERENCES
Characterization of the human aldolase B gene.
  • 45
Characterization of the chicken aldolase B gene.
  • 46
Structure and genomic organization of the rat aldolase B gene.
  • 46
Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones.
  • 64
  • PDF
A new human species of aldolase A mRNA from fibroblasts.
  • 19
...
1
2
3
4
...