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Article

Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

Human genetics - 1 Jul 2001

Trbusek M, Francová H, Kozák L

Abstract excerpt

Galactosemia is a metabolic disorder caused by a defect in the galactose-1-phosphate uridyltransferase (GALT) enzyme. In previous studies, we have shown that the presence of a deletion in the 5' upstream (promoter) region of the GALT gene is associated with the Duarte (D2) allele. In the present study, by using a promoter fusion assay we provide direct evidence that a GTCA deletion located in position -119/-116...

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Source

Identifiers

PMID: 11479743
DOI: 10.1007/s004390100540

Genes

GALT

Provenance

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.

Related research

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Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.PMID 11479743Read ↗

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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

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Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.Semantic proximity Read ↗

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