RT Journal Article SR Electronic T1 Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 786 OP 788 DO 10.1136/jmg.33.9.786 VO 33 IS 9 A1 Santamaria, R A1 Tamasi, S A1 Del Piano, G A1 Sebastio, G A1 Andria, G A1 Borrone, C A1 Faldella, G A1 Izzo, P A1 Salvatore, F YR 1996 UL http://jmg.bmj.com/content/33/9/786.abstract AB 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).