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 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% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDA4 previously described only in one British family, which may be an important cause of the disease in Italy.
| Original language | English |
|---|---|
| Pages (from-to) | 675-678 |
| Number of pages | 4 |
| Journal | Clinical Chemistry and Laboratory Medicine |
| Volume | 31 |
| Issue number | 10 |
| DOIs | |
| Publication status | Published - 1993 |
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ASJC Scopus subject areas
- Clinical Biochemistry
- Biochemistry, medical
Cite this
The Molecular Basis of Hereditary Fructose Intolerance in Italian Children). / Santamaria, Rita; Scarano, Maria Irene; Esposito, Gabriella; Chiandetti, L.; Izzo, Paola; Salvatore, F.
In: Clinical Chemistry and Laboratory Medicine, Vol. 31, No. 10, 1993, p. 675-678.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The Molecular Basis of Hereditary Fructose Intolerance in Italian Children)
AU - Santamaria, Rita
AU - Scarano, Maria Irene
AU - Esposito, Gabriella
AU - Chiandetti, L.
AU - Izzo, Paola
AU - Salvatore, F.
PY - 1993
Y1 - 1993
N2 - 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% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDA4 previously described only in one British family, which may be an important cause of the disease in Italy.
AB - 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% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDA4 previously described only in one British family, which may be an important cause of the disease in Italy.
UR - http://www.scopus.com/inward/record.url?scp=84961485595&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84961485595&partnerID=8YFLogxK
U2 - 10.1515/cclm.1993.31.10.675
DO - 10.1515/cclm.1993.31.10.675
M3 - Article
VL - 31
SP - 675
EP - 678
JO - Clinical Chemistry and Laboratory Medicine
JF - Clinical Chemistry and Laboratory Medicine
SN - 1434-6621
IS - 10
ER -