title: Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
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).
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Medical School Università di Napoli Federico II, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Santamaria
authors.forename: S
authors.initials: S
authors.lastname: Tamasi
authors.forename: G
authors.initials: G
authors.lastname: Del Piano
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: C
authors.initials: C
authors.lastname: Borrone
authors.forename: G
authors.initials: G
authors.lastname: Faldella
authors.forename: P
authors.initials: P
authors.lastname: Izzo
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005633:Fructose Intolerance / Q000201:enzymology / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D005634:Fructose-Bisphosphate Aldolase