A partially active mutant aldolase B from a patient with hereditary fructose intolerance

@article{Brooks1994APA,
  title={A partially active mutant aldolase B from a patient with hereditary fructose intolerance},
  author={C. C. Brooks and D. Tolan},
  journal={The FASEB Journal},
  year={1994},
  volume={8},
  pages={107 - 113}
}
Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients are deficient in aldolase B, the isozyme expressed in fructose‐metabolizing tissues. The eight protein coding exons, including splicing signals, of the aldolase B gene from one American HFI patient were amplified by the polymerase chain reaction (PCR). Single‐strand conformational polymorphism (SSCP) analysis and direct sequence determination were applied to the… Expand
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