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, 87 (4), 376-8

Aldolase B Mutations and Prevalence of Hereditary Fructose Intolerance in a Polish Population

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Aldolase B Mutations and Prevalence of Hereditary Fructose Intolerance in a Polish Population

Jakub Gruchota et al. Mol Genet Metab.

Abstract

We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals): c.250delC (frameshift) and c.522 C > G (p.Y174X). The most frequent mutation c.448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000.

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