Article
The molecular basis of hereditary fructose intolerance in Italian children.
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Oct 1993
Santamaria R, Scarano M I, Esposito G, Chiandetti L, Izzo P, Salvatore F
Abstract excerpt
We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30%...
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