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  • Title: Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
    Author: Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F.
    Journal: J Med Genet; 1996 Sep; 33(9):786-8. PubMed ID: 8880583.
    Abstract:
    We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W).
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