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Article

Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.

Molecular and cellular probes - 1 Jun 2007

Kriegshäuser Gernot, Halsall David, Rauscher Bettina, Oberkanins Christian

Abstract excerpt

Hereditary fructose intolerance (HFI) is a potentially fatal nutritional disease that is caused by mutations in the liver isoenzyme of fructoaldolase (aldolase B). Our aim was to evaluate a diagnostic assay capable of simultaneously analyzing three-point mutations and a small deletion in the aldolase B (ALDOB) gene. The test under investigation is based on multiplex DNA amplification and hybridization to membrane...

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Source

Identifiers

PMID: 17292585
DOI: 10.1016/j.mcp.2007.01.001

Genes

ALDOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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