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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 met...

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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 4 Sept 2026. Prepared record publication-14741195-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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

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