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Mol Genet Metab. 2006 Apr;87(4):376-8. Epub 2006 Jan 10.

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

Author information

1
Department of Forensic Medicine, Medical University of Warsaw, Poland.

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.

PMID:
16406649
DOI:
10.1016/j.ymgme.2005.11.010
[Indexed for MEDLINE]

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