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Article

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Journal of inherited metabolic disease - 1 Jan 1996

Podskarbi T, Kohlmetz T, Gathof B S, Kleinlein B, Bieger W P, Gresser U, Shin Y S

Abstract excerpt

The N314D polymorphism was found in two different alleles of the galactose-1-phosphate uridyltransferase (GALT) gene, Duarte-1 (D1) and Duarte-2 (D2). Although both variants have identical electrophoretic mobility and isoelectro-focusing points, the galactose-1-phosphate uridyltransferase (GALT) activity varies: D1 alleles showed 110-130% of the normal RBC activity, but D2 alleles only 40-50%. We found that D1...

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Source

Identifiers

PMID: 8892021
DOI: 10.1007/BF01799840

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.PMID 8892021Read ↗

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.Semantic proximity Read ↗

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.Semantic proximity Read ↗

Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.Semantic proximity Read ↗

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

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.Semantic proximity Read ↗

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

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

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

Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.Semantic proximity Read ↗

Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.Semantic proximity Read ↗

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.Semantic proximity Read ↗

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