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Article

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

Molecular genetics and metabolism - 1 Apr 2001

Elsas L J, Lai K, Saunders C J, Langley S D

Abstract excerpt

Human galactose-1-phosphate uridyltransferase (hGALT) is an evolutionarily conserved enzyme central to D-galactose metabolism. The impairment of hGALT causes galactosemia. One missense mutation, an aspartate to asparagine substitution at amino acid 314 (N314D), impairs 50% activity in the homozygous state in some patients but gives near normal activity in others. The former condition is called Duarte (D) and the...

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Source

Identifiers

PMID: 11286503
DOI: 10.1006/mgme.2001.3157

Genes

GALT

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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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Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.PMID 11286503Read ↗

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The human galactose-1-phosphate uridyltransferase gene.Semantic proximity Read ↗

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