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

AUTOR(ES)

Santamaria, R

RESUMO

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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