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Article

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.

Molecular genetics and metabolism - 1 Feb 2004

Flanagan Jonathon M, Tighe Orna, O' Neill Charles, Naughten Eileen, Mayne Philip D, Croke David T

Abstract excerpt

Transferase-deficient galactosaemia is an inherited disorder of carbohydrate metabolism, caused by mutation at the galactose-1-phosphate uridyl transferase (GALT) locus. A denaturing high performance liquid chromatography (dHPLC) method was developed for variant scanning of the GALT gene. The method unequivocally identified the Duarte D1, D2, Q188R, and K285N GALT alleles and associated polymorphisms. Length...

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Source

Identifiers

PMID: 14741195
DOI: 10.1016/j.ymgme.2003.10.008

Genes

GALT

Variants

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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Research trail→

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Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.PMID 14741195Read ↗

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.Semantic proximity Read ↗

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Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.Semantic proximity Read ↗

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

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

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).Semantic proximity Read ↗

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.Semantic proximity Read ↗

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.Semantic proximity Read ↗

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.Semantic proximity Read ↗

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.Semantic proximity Read ↗

A common mutation associated with the Duarte galactosemia allele.Semantic proximity Read ↗

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