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Article

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Molecular genetics and metabolism - 1 Aug 2008

Davit-Spraul Anne, Costa Catherine, Zater Mokhtar, Habes Dalila, Berthelot Jacques, Broué Pierre, Feillet François, Bernard Olivier, Labrune Philippe, Baussan Christiane

Abstract excerpt

We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing. Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. As in previous studies, p.A150P (64%), p.A175D (16%) and p.N335K (5%) were the most common...

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Identifiers

PMID: 18541450
DOI: 10.1016/j.ymgme.2008.05.003

Genes

ALDOB

Variants

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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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