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- Title
The Molecular Basis of Hereditary Fructose Intolerance in Italian Children.
- Authors
Santamaria, Rita; Scarano, Maria Irene; Esposito, Gabriella; Chiandetti, L.; Izzo, Paola; Salvatore, F.
- Abstract
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 allelespecific 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% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDΔ4 previously described only ih one British family, which may be an important cause of the disease in Italy.
- Publication
Clinical Chemistry & Laboratory Medicine, 1993, Vol 31, Issue 10, p675
- ISSN
1434-6621
- Publication type
Article