Molecular analysis of aldolase B genes in hereditary fructose intolerance

@article{Cross1990MolecularAO,
  title={Molecular analysis of aldolase B genes in hereditary fructose intolerance},
  author={N. Cross and T. Cox and R. Franchis and G. Sebastio and R. Gitzelmann},
  journal={The Lancet},
  year={1990},
  volume={335},
  pages={306-309}
}
The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found… Expand
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