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  • Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

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Research Article
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
  1. R Santamaria,
  2. S Tamasi,
  3. G Del Piano,
  4. G Sebastio,
  5. G Andria,
  6. C Borrone,
  7. G Faldella,
  8. P Izzo,
  9. F Salvatore
  1. Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Medical School Università di Napoli Federico II, Italy.

    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).

    http://dx.doi.org/10.1136/jmg.33.9.786

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