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Article

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

Molecular genetics and metabolism - 1 Apr 2006

Gruchota Jakub, Pronicka Ewa, Korniszewski Lech, Stolarski Bartosz, Pollak Agnieszka, Rogaszewska Małgorzata, Płoski Rafał

Abstract excerpt

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...

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Source

Identifiers

PMID: 16406649
DOI: 10.1016/j.ymgme.2005.11.010

Genes

ALDOB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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