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Article

Molecular basis for Duarte and Los Angeles variant galactosemia.

American journal of human genetics - 1 Feb 1997

Langley S D, Lai K, Dembure P P, Hjelm L N, Elsas L J

Abstract excerpt

Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric focusing and 50% reduction in galactose-1-phosphate uridyltransferase (GALT) enzyme activity. The Duarte biochemical phenotype has a molecular genotype of N314D/...

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Identifiers

PMID: 9012409
PMCID: PMC1712399

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9012409-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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Molecular basis for Duarte and Los Angeles variant galactosemia.PMID 9012409Read ↗

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A common mutation associated with the Duarte galactosemia allele.Semantic proximity Read ↗

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.Semantic proximity Read ↗

A molecular approach to galactosemia.Semantic proximity Read ↗

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

The molecular biology of galactosemia.Semantic proximity Read ↗

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.Semantic proximity Read ↗

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.Semantic proximity Read ↗

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

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