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Article

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.

The FEBS journal - 1 Apr 2009

Bang You-Lim, Nguyen Trang T T, Trinh Tram T B, Kim Yun J, Song Junghan, Song Young-Han

Abstract excerpt

Galactosemia is caused by defects in the galactose metabolic pathway, which consists of three enzymes, including UDP-galactose-4-epimerase (GALE). We previously reported nine mutations in Korean patients with epimerase-deficiency galactosemia. In order to determine the functional consequences of these mutations, we expressed wild-type and mutant GALE proteins in 293T cells. GALE(E165K) and GALE(W336X) proteins...

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Source

Identifiers

PMID: 19250319
DOI: 10.1111/j.1742-4658.2009.06922.x

Genes

GALE

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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