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Article

A yeast expression system for human galactose-1-phosphate uridylyltransferase.

Proceedings of the National Academy of Sciences of the United States of America - 15 Jan 1993

Fridovich-Keil J L, Jinks-Robertson S

Abstract excerpt

Galactose-1-phosphate uridylyltransferase (GALT) (UTP: alpha-D-hexose-1-phosphate uridylyltransferase, EC 2.7.7.10) is an essential enzyme of the Leloir pathway of galactose metabolism. Mutations in human GALT are associated with the potentially lethal disorder galactosemia, which affects 1 in 30,000-60,000 live-born infants. Although a number of base substitutions have been identified in the GALT alleles of...

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Identifiers

PMID: 8421669
DOI: 10.1073/pnas.90.2.398
PMCID: PMC45669

Genes

GALT

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