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Article

Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system.

Biochemical and molecular medicine - 1 Dec 1995

Fridovich-Keil J L, Quimby B B, Wells L, Mazur L A, Elsevier J P

Abstract excerpt

Transferase-deficiency galactosemia is an inborn error of metabolism resulting from impairment of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which normally catalyzes the second step of the Leloir pathway of galactose metabolism. Several recent studies have linked a previously re...

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Source

Identifiers

PMID: 8825075
DOI: 10.1006/bmme.1995.1067

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8825075-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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